Name: rs8176740
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs8176740

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:133256085 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>C / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.269440 (71318/264690, TOPMED)
T=0.253018 (52729/208400, GnomAD_exome)
T=0.250755 (35051/139782, GnomAD) (+ 21 more)
T=0.25390 (15966/62884, ExAC)
T=0.24400 (12678/51958, ALFA)
T=0.26772 (7560/28238, 14KJPN)
T=0.26574 (4449/16742, 8.3KJPN)
T=0.22599 (2904/12850, GO-ESP)
T=0.2669 (1709/6404, 1000G_30x)
T=0.2690 (1347/5008, 1000G)
T=0.1871 (838/4480, Estonian)
T=0.2473 (953/3854, ALSPAC)
T=0.2381 (883/3708, TWINSUK)
T=0.2068 (606/2930, KOREAN)
T=0.2068 (378/1828, Korea1K)
T=0.219 (219/998, GoNL)
T=0.232 (183/790, PRJEB37584)
T=0.230 (138/600, NorthernSweden)
T=0.002 (1/534, MGP)
A=0.408 (98/240, SGDP_PRJ)
T=0.255 (55/216, Qatari)
T=0.17 (12/72, Ancient Sardinia)
T=0.20 (8/40, GENOME_DK)
A=0.39 (11/28, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ABO : Missense Variant
Publications: 4 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	51958	A=0.75600	C=0.00000, T=0.24400
European	Sub	40154	A=0.76152	C=0.00000, T=0.23848
African	Sub	3316	A=0.7768	C=0.0000, T=0.2232
African Others	Sub	110	A=0.791	C=0.000, T=0.209
African American	Sub	3206	A=0.7764	C=0.0000, T=0.2236
Asian	Sub	168	A=0.655	C=0.000, T=0.345
East Asian	Sub	112	A=0.688	C=0.000, T=0.312
Other Asian	Sub	56	A=0.59	C=0.00, T=0.41
Latin American 1	Sub	492	A=0.744	C=0.000, T=0.256
Latin American 2	Sub	626	A=0.573	C=0.000, T=0.427
South Asian	Sub	98	A=0.77	C=0.00, T=0.23
Other	Sub	7104	A=0.7342	C=0.0000, T=0.2658

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.730560	T=0.269440
gnomAD - Exomes	Global	Study-wide	208400	A=0.746982	T=0.253018
gnomAD - Exomes	European	Sub	111364	A=0.787211	T=0.212789
gnomAD - Exomes	Asian	Sub	41700	A=0.78561	T=0.21439
gnomAD - Exomes	American	Sub	29106	A=0.53305	T=0.46695
gnomAD - Exomes	African	Sub	11644	A=0.76743	T=0.23257
gnomAD - Exomes	Ashkenazi Jewish	Sub	9256	A=0.7311	T=0.2689
gnomAD - Exomes	Other	Sub	5330	A=0.7553	T=0.2447
gnomAD - Genomes	Global	Study-wide	139782	A=0.749245	T=0.250755
gnomAD - Genomes	European	Sub	75786	A=0.77023	T=0.22977
gnomAD - Genomes	African	Sub	41796	A=0.75586	T=0.24414
gnomAD - Genomes	American	Sub	13620	A=0.62085	T=0.37915
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	A=0.7247	T=0.2753
gnomAD - Genomes	East Asian	Sub	3116	A=0.7343	T=0.2657
gnomAD - Genomes	Other	Sub	2148	A=0.7537	T=0.2463
ExAC	Global	Study-wide	62884	A=0.74610	T=0.25390
ExAC	Europe	Sub	37734	A=0.75823	T=0.24177
ExAC	Asian	Sub	15092	A=0.78207	T=0.21793
ExAC	African	Sub	4928	A=0.7419	T=0.2581
ExAC	American	Sub	4638	A=0.5326	T=0.4674
ExAC	Other	Sub	492	A=0.768	T=0.232
Allele Frequency Aggregator	Total	Global	51958	A=0.75600	C=0.00000, T=0.24400
Allele Frequency Aggregator	European	Sub	40154	A=0.76152	C=0.00000, T=0.23848
Allele Frequency Aggregator	Other	Sub	7104	A=0.7342	C=0.0000, T=0.2658
Allele Frequency Aggregator	African	Sub	3316	A=0.7768	C=0.0000, T=0.2232
Allele Frequency Aggregator	Latin American 2	Sub	626	A=0.573	C=0.000, T=0.427
Allele Frequency Aggregator	Latin American 1	Sub	492	A=0.744	C=0.000, T=0.256
Allele Frequency Aggregator	Asian	Sub	168	A=0.655	C=0.000, T=0.345
Allele Frequency Aggregator	South Asian	Sub	98	A=0.77	C=0.00, T=0.23
14KJPN	JAPANESE	Study-wide	28238	A=0.73228	T=0.26772
8.3KJPN	JAPANESE	Study-wide	16742	A=0.73426	T=0.26574
GO Exome Sequencing Project	Global	Study-wide	12850	A=0.77401	T=0.22599
GO Exome Sequencing Project	European American	Sub	8510	A=0.7713	T=0.2287
GO Exome Sequencing Project	African American	Sub	4340	A=0.7793	T=0.2207
1000Genomes_30x	Global	Study-wide	6404	A=0.7331	T=0.2669
1000Genomes_30x	African	Sub	1786	A=0.7604	T=0.2396
1000Genomes_30x	Europe	Sub	1266	A=0.7765	T=0.2235
1000Genomes_30x	South Asian	Sub	1202	A=0.7953	T=0.2047
1000Genomes_30x	East Asian	Sub	1170	A=0.7154	T=0.2846
1000Genomes_30x	American	Sub	980	A=0.572	T=0.428
1000Genomes	Global	Study-wide	5008	A=0.7310	T=0.2690
1000Genomes	African	Sub	1322	A=0.7579	T=0.2421
1000Genomes	East Asian	Sub	1008	A=0.7113	T=0.2887
1000Genomes	Europe	Sub	1006	A=0.7793	T=0.2207
1000Genomes	South Asian	Sub	978	A=0.780	T=0.220
1000Genomes	American	Sub	694	A=0.569	T=0.431
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.8129	T=0.1871
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7527	T=0.2473
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7619	T=0.2381
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.7932	T=0.2068
Korean Genome Project	KOREAN	Study-wide	1828	A=0.7932	T=0.2068
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.781	T=0.219
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.768	T=0.232
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.768	T=0.232
Northern Sweden	ACPOP	Study-wide	600	A=0.770	T=0.230
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.998	T=0.002
SGDP_PRJ	Global	Study-wide	240	A=0.408	T=0.592
Qatari	Global	Study-wide	216	A=0.745	T=0.255
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	72	A=0.83	T=0.17
The Danish reference pan genome	Danish	Study-wide	40	A=0.80	T=0.20
Siberian	Global	Study-wide	28	A=0.39	T=0.61

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 9	NC_000009.12:g.133256085A>C
GRCh38.p14 chr 9	NC_000009.12:g.133256085A>T
GRCh37.p13 chr 9	NC_000009.11:g.136131472A>C
GRCh37.p13 chr 9	NC_000009.11:g.136131472A>T
ABO RefSeqGene (LRG_792)	NG_006669.2:g.24131T>G
ABO RefSeqGene (LRG_792)	NG_006669.2:g.24131T>A
GRCh38.p14 chr 9 fix patch HG2030_PATCH	NW_009646201.1:g.82178A>C
GRCh38.p14 chr 9 fix patch HG2030_PATCH	NW_009646201.1:g.82178A>T
GRCh37.p13 chr 9 fix patch HG79_PATCH	NW_003315925.1:g.82178A>C
GRCh37.p13 chr 9 fix patch HG79_PATCH	NW_003315925.1:g.82178A>T

Gene: ABO, ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABO transcript variant A1.01	NM_020469.3:c.646T>G	F [TTC] > V [GTC]	Coding Sequence Variant
histo-blood group ABO system transferase isoform A1.01	NP_065202.2:p.Phe216Val	F (Phe) > V (Val)	Missense Variant
ABO transcript variant A1.01	NM_020469.3:c.646T>A	F [TTC] > I [ATC]	Coding Sequence Variant
histo-blood group ABO system transferase isoform A1.01	NP_065202.2:p.Phe216Ile	F (Phe) > I (Ile)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 800868 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001003450.1	Three Vessel Coronary Disease	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	C	T
GRCh38.p14 chr 9	NC_000009.12:g.133256085=	NC_000009.12:g.133256085A>C	NC_000009.12:g.133256085A>T
GRCh37.p13 chr 9	NC_000009.11:g.136131472=	NC_000009.11:g.136131472A>C	NC_000009.11:g.136131472A>T
ABO RefSeqGene (LRG_792)	NG_006669.2:g.24131=	NG_006669.2:g.24131T>G	NG_006669.2:g.24131T>A
ABO transcript variant A1.01	NM_020469.3:c.646=	NM_020469.3:c.646T>G	NM_020469.3:c.646T>A
ABO transcript	NM_020469.2:c.646=	NM_020469.2:c.646T>G	NM_020469.2:c.646T>A
GRCh38.p14 chr 9 fix patch HG2030_PATCH	NW_009646201.1:g.82178=	NW_009646201.1:g.82178A>C	NW_009646201.1:g.82178A>T
GRCh37.p13 chr 9 fix patch HG79_PATCH	NW_003315925.1:g.82178=	NW_003315925.1:g.82178A>C	NW_003315925.1:g.82178A>T
histo-blood group ABO system transferase isoform A1.01	NP_065202.2:p.Phe216=	NP_065202.2:p.Phe216Val	NP_065202.2:p.Phe216Ile

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

126 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PGA-UW-FHCRC	ss8487020	Aug 27, 2003 (117)
2	PERLEGEN	ss23896692	Sep 20, 2004 (123)
3	APPLERA_GI	ss48424733	Mar 15, 2006 (126)
4	ILLUMINA	ss65729795	Oct 13, 2006 (127)
5	PERLEGEN	ss69305163	May 16, 2007 (127)
6	SI_EXO	ss76886166	Dec 07, 2007 (129)
7	BCMHGSC_JDW	ss94182579	Mar 25, 2008 (129)
8	BGI	ss104659740	Dec 01, 2009 (131)
9	1000GENOMES	ss109116689	Jan 23, 2009 (130)
10	1000GENOMES	ss115159553	Jan 25, 2009 (130)
11	ILLUMINA	ss120036414	Dec 01, 2009 (131)
12	ENSEMBL	ss144394516	Dec 01, 2009 (131)
13	ILLUMINA	ss160953569	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss164995064	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss165879775	Jul 04, 2010 (132)
16	ILLUMINA	ss174732171	Jul 04, 2010 (132)
17	1000GENOMES	ss224489017	Jul 14, 2010 (132)
18	1000GENOMES	ss234995930	Jul 15, 2010 (132)
19	1000GENOMES	ss241740510	Jul 15, 2010 (132)
20	ILLUMINA	ss244312816	Jul 04, 2010 (132)
21	GMI	ss280425531	May 04, 2012 (137)
22	ILLUMINA	ss410880794	Sep 17, 2011 (135)
23	ILLUMINA	ss482789354	Sep 08, 2015 (146)
24	ILLUMINA	ss484346915	May 04, 2012 (137)
25	ILLUMINA	ss485741890	May 04, 2012 (137)
26	EXOME_CHIP	ss491429766	May 04, 2012 (137)
27	TISHKOFF	ss561679651	Apr 25, 2013 (138)
28	SSMP	ss656175835	Apr 25, 2013 (138)
29	NHLBI-ESP	ss712915749	Apr 25, 2013 (138)
30	ILLUMINA	ss780631308	Aug 21, 2014 (142)
31	ILLUMINA	ss780882300	Aug 21, 2014 (142)
32	ILLUMINA	ss782619702	Aug 21, 2014 (142)
33	ILLUMINA	ss783568086	Aug 21, 2014 (142)
34	ILLUMINA	ss783604336	Aug 21, 2014 (142)
35	ILLUMINA	ss836125197	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss974472920	Aug 21, 2014 (142)
37	EVA-GONL	ss987051835	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1067508640	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1076659977	Aug 21, 2014 (142)
40	1000GENOMES	ss1335736818	Aug 21, 2014 (142)
41	DDI	ss1431980408	Apr 09, 2015 (144)
42	EVA_GENOME_DK	ss1583284643	Apr 09, 2015 (144)
43	EVA_DECODE	ss1596698431	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1623713214	Apr 09, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1666707247	Apr 09, 2015 (144)
46	EVA_EXAC	ss1689719977	Apr 09, 2015 (144)
47	EVA_MGP	ss1711241212	Apr 09, 2015 (144)
48	ILLUMINA	ss1752764171	Sep 08, 2015 (146)
49	ILLUMINA	ss1917842367	Feb 12, 2016 (147)
50	WEILL_CORNELL_DGM	ss1930365665	Feb 12, 2016 (147)
51	ILLUMINA	ss1946271473	Feb 12, 2016 (147)
52	ILLUMINA	ss1959223643	Feb 12, 2016 (147)
53	JJLAB	ss2025906424	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2154141547	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2315018828	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2627421479	Nov 08, 2017 (151)
57	ILLUMINA	ss2634926194	Nov 08, 2017 (151)
58	GRF	ss2710026932	Nov 08, 2017 (151)
59	GNOMAD	ss2737967982	Nov 08, 2017 (151)
60	GNOMAD	ss2748297829	Nov 08, 2017 (151)
61	GNOMAD	ss2884018199	Nov 08, 2017 (151)
62	AFFY	ss2985476697	Nov 08, 2017 (151)
63	SWEGEN	ss3005708066	Nov 08, 2017 (151)
64	ILLUMINA	ss3022973119	Nov 08, 2017 (151)
65	BIOINF_KMB_FNS_UNIBA	ss3026735042	Nov 08, 2017 (151)
66	CSHL	ss3348888587	Nov 08, 2017 (151)
67	ILLUMINA	ss3630373690	Oct 12, 2018 (152)
68	ILLUMINA	ss3632815065	Oct 12, 2018 (152)
69	ILLUMINA	ss3635237098	Oct 12, 2018 (152)
70	ILLUMINA	ss3636985753	Oct 12, 2018 (152)
71	ILLUMINA	ss3638840637	Oct 12, 2018 (152)
72	ILLUMINA	ss3640944387	Oct 12, 2018 (152)
73	ILLUMINA	ss3645004809	Oct 12, 2018 (152)
74	OMUKHERJEE_ADBS	ss3646399568	Oct 12, 2018 (152)
75	ILLUMINA	ss3653529637	Oct 12, 2018 (152)
76	ILLUMINA	ss3654241670	Oct 12, 2018 (152)
77	EGCUT_WGS	ss3673246641	Jul 13, 2019 (153)
78	EVA_DECODE	ss3724896210	Jul 13, 2019 (153)
79	ACPOP	ss3736935973	Jul 13, 2019 (153)
80	ILLUMINA	ss3744595276	Jul 13, 2019 (153)
81	ILLUMINA	ss3745536996	Jul 13, 2019 (153)
82	EVA	ss3769777960	Jul 13, 2019 (153)
83	ILLUMINA	ss3773028768	Jul 13, 2019 (153)
84	KHV_HUMAN_GENOMES	ss3812939019	Jul 13, 2019 (153)
85	EVA	ss3824479418	Apr 26, 2020 (154)
86	EVA	ss3825766025	Apr 26, 2020 (154)
87	EVA	ss3831894743	Apr 26, 2020 (154)
88	SGDP_PRJ	ss3873217654	Apr 26, 2020 (154)
89	KRGDB	ss3921123936	Apr 26, 2020 (154)
90	KOGIC	ss3966911473	Apr 26, 2020 (154)
91	FSA-LAB	ss3984433154	Apr 26, 2021 (155)
92	FSA-LAB	ss3984433155	Apr 26, 2021 (155)
93	EVA	ss3984627196	Apr 26, 2021 (155)
94	EVA	ss3985449409	Apr 26, 2021 (155)
95	EVA	ss3986048483	Apr 26, 2021 (155)
96	EVA	ss3986466925	Apr 26, 2021 (155)
97	EVA	ss4017462805	Apr 26, 2021 (155)
98	TOPMED	ss4838097461	Apr 26, 2021 (155)
99	TOMMO_GENOMICS	ss5195631663	Apr 26, 2021 (155)
100	EVA	ss5237053376	Apr 26, 2021 (155)
101	EVA	ss5237468399	Apr 26, 2021 (155)
102	EVA	ss5237654017	Oct 13, 2022 (156)
103	1000G_HIGH_COVERAGE	ss5282430041	Oct 13, 2022 (156)
104	TRAN_CS_UWATERLOO	ss5314426979	Oct 13, 2022 (156)
105	EVA	ss5315438851	Oct 13, 2022 (156)
106	EVA	ss5390718022	Oct 13, 2022 (156)
107	HUGCELL_USP	ss5478271694	Oct 13, 2022 (156)
108	EVA	ss5509868657	Oct 13, 2022 (156)
109	1000G_HIGH_COVERAGE	ss5575607133	Oct 13, 2022 (156)
110	EVA	ss5623947652	Oct 13, 2022 (156)
111	EVA	ss5624189061	Oct 13, 2022 (156)
112	SANFORD_IMAGENETICS	ss5624732313	Oct 13, 2022 (156)
113	SANFORD_IMAGENETICS	ss5648401735	Oct 13, 2022 (156)
114	TOMMO_GENOMICS	ss5740272257	Oct 13, 2022 (156)
115	EVA	ss5799438878	Oct 13, 2022 (156)
116	EVA	ss5800155504	Oct 13, 2022 (156)
117	YY_MCH	ss5811067297	Oct 13, 2022 (156)
118	EVA	ss5829845895	Oct 13, 2022 (156)
119	EVA	ss5847364610	Oct 13, 2022 (156)
120	EVA	ss5848222673	Oct 13, 2022 (156)
121	EVA	ss5848733857	Oct 13, 2022 (156)
122	EVA	ss5856964699	Oct 13, 2022 (156)
123	EVA	ss5918311527	Oct 13, 2022 (156)
124	EVA	ss5977616520	Oct 13, 2022 (156)
125	EVA	ss5979908660	Oct 13, 2022 (156)
126	EVA	ss5980583578	Oct 13, 2022 (156)
127	1000Genomes	NC_000009.11 - 136131472	Oct 12, 2018 (152)
128	1000Genomes_30x	NC_000009.12 - 133256085	Oct 13, 2022 (156)
129	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 136131472	Oct 12, 2018 (152)
130	Genetic variation in the Estonian population	NC_000009.11 - 136131472	Oct 12, 2018 (152)
131	ExAC	NC_000009.11 - 136131472	Oct 12, 2018 (152)
132	The Danish reference pan genome	NC_000009.11 - 136131472	Apr 26, 2020 (154)
133	gnomAD - Genomes	NC_000009.12 - 133256085	Apr 26, 2021 (155)
134	gnomAD - Exomes	NC_000009.11 - 136131472	Jul 13, 2019 (153)
135	GO Exome Sequencing Project	NC_000009.11 - 136131472	Oct 12, 2018 (152)
136	Genome of the Netherlands Release 5	NC_000009.11 - 136131472	Apr 26, 2020 (154)
137	KOREAN population from KRGDB	NC_000009.11 - 136131472	Apr 26, 2020 (154)
138	Korean Genome Project	NC_000009.12 - 133256085	Apr 26, 2020 (154)
139	Medical Genome Project healthy controls from Spanish population	NC_000009.11 - 136131472	Apr 26, 2020 (154)
140	Northern Sweden	NC_000009.11 - 136131472	Jul 13, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000009.11 - 136131472	Apr 26, 2021 (155)
142	CNV burdens in cranial meningiomas	NC_000009.11 - 136131472	Apr 26, 2021 (155)
143	Qatari	NC_000009.11 - 136131472	Apr 26, 2020 (154)
144	SGDP_PRJ	NC_000009.11 - 136131472	Apr 26, 2020 (154)
145	Siberian	NC_000009.11 - 136131472	Apr 26, 2020 (154)
146	8.3KJPN	NC_000009.11 - 136131472	Apr 26, 2021 (155)
147	14KJPN	NC_000009.12 - 133256085	Oct 13, 2022 (156)
148	TopMed	NC_000009.12 - 133256085	Apr 26, 2021 (155)
149	UK 10K study - Twins	NC_000009.11 - 136131472	Oct 12, 2018 (152)
150	ALFA	NC_000009.12 - 133256085	Apr 26, 2021 (155)
151	ClinVar	RCV001003450.1	Apr 26, 2020 (154)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6304891310	NC_000009.12:133256084:A:C	NC_000009.12:133256084:A:C	(self)
ss94182579, ss109116689, ss115159553, ss164995064, ss165879775, ss280425531, ss410880794, ss485741890, ss1596698431	NC_000009.10:135121292:A:T	NC_000009.12:133256084:A:T	(self)
48065099, 26714539, 18984889, 9860338, 9449580, 7157896, 937153, 11914041, 28301330, 356972, 10220838, 675336, 176649, 12407595, 25234634, 6657901, 53600970, 26714539, ss224489017, ss234995930, ss241740510, ss482789354, ss484346915, ss491429766, ss561679651, ss656175835, ss712915749, ss780631308, ss780882300, ss782619702, ss783568086, ss783604336, ss836125197, ss974472920, ss987051835, ss1067508640, ss1076659977, ss1335736818, ss1431980408, ss1583284643, ss1623713214, ss1666707247, ss1689719977, ss1711241212, ss1752764171, ss1917842367, ss1930365665, ss1946271473, ss1959223643, ss2025906424, ss2154141547, ss2627421479, ss2634926194, ss2710026932, ss2737967982, ss2748297829, ss2884018199, ss2985476697, ss3005708066, ss3022973119, ss3348888587, ss3630373690, ss3632815065, ss3635237098, ss3636985753, ss3638840637, ss3640944387, ss3645004809, ss3646399568, ss3653529637, ss3654241670, ss3673246641, ss3736935973, ss3744595276, ss3745536996, ss3769777960, ss3773028768, ss3824479418, ss3825766025, ss3831894743, ss3873217654, ss3921123936, ss3984433154, ss3984433155, ss3984627196, ss3985449409, ss3986048483, ss3986466925, ss4017462805, ss5195631663, ss5237468399, ss5315438851, ss5390718022, ss5509868657, ss5623947652, ss5624189061, ss5624732313, ss5648401735, ss5799438878, ss5800155504, ss5829845895, ss5847364610, ss5848222673, ss5848733857, ss5977616520, ss5979908660, ss5980583578	NC_000009.11:136131471:A:T	NC_000009.12:133256084:A:T	(self)
RCV001003450.1, 63133068, 339698446, 23289474, 74109361, 675475022, 6304891310, ss2315018828, ss3026735042, ss3724896210, ss3812939019, ss3966911473, ss4838097461, ss5237053376, ss5237654017, ss5282430041, ss5314426979, ss5478271694, ss5575607133, ss5740272257, ss5811067297, ss5856964699, ss5918311527	NC_000009.12:133256084:A:T	NC_000009.12:133256084:A:T	(self)
ss8487020, ss23896692, ss48424733, ss65729795, ss69305163, ss76886166, ss104659740, ss120036414, ss144394516, ss160953569, ss174732171, ss244312816	NT_035014.4:2908411:A:T	NC_000009.12:133256084:A:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

4 citations for rs8176740

PMID	Title	Author	Year	Journal
19169360	Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity.	Taylor-Cousar JL et al.	2009	PloS one
23133757	ABO Blood Groups and Cardiovascular Diseases.	Zhang H et al.	2012	International journal of vascular medicine
24743543	Rs495828 polymorphism of the ABO gene is a predictor of enalapril-induced cough in Chinese patients with essential hypertension.	Luo JQ et al.	2014	Pharmacogenetics and genomics
35454075	The rs8176740 T/A and rs512770 T/C Genetic Variants of the ABO Gene Increased the Risk of COVID-19, as well as the Plasma Concentration Platelets.	Vargas-Alarcón G et al.	2022	Biomolecules

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs8176740