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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs6733298

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:56223721 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.118618 (31397/264690, TOPMED)
A=0.128790 (25502/198012, ALFA)
A=0.114590 (16054/140100, GnomAD) (+ 19 more)
A=0.12234 (3457/28258, 14KJPN)
A=0.12315 (2064/16760, 8.3KJPN)
A=0.1302 (834/6404, 1000G_30x)
A=0.1328 (665/5008, 1000G)
A=0.1105 (495/4480, Estonian)
A=0.1362 (525/3854, ALSPAC)
A=0.1327 (492/3708, TWINSUK)
A=0.1618 (474/2930, KOREAN)
A=0.1176 (245/2084, HGDP_Stanford)
A=0.1162 (219/1884, HapMap)
A=0.1741 (319/1832, Korea1K)
A=0.120 (120/998, GoNL)
A=0.123 (74/600, NorthernSweden)
A=0.093 (51/548, SGDP_PRJ)
A=0.069 (15/216, Qatari)
A=0.112 (24/214, Vietnamese)
A=0.09 (5/56, Siberian)
A=0.07 (3/40, GENOME_DK)
A=0.43 (6/14, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CCDC85A : Intron Variant
Publications
1 citation
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 198012 A=0.128790 G=0.871210
European Sub 171292 A=0.129265 G=0.870735
African Sub 7770 A=0.0965 G=0.9035
African Others Sub 276 A=0.120 G=0.880
African American Sub 7494 A=0.0957 G=0.9043
Asian Sub 750 A=0.161 G=0.839
East Asian Sub 572 A=0.180 G=0.820
Other Asian Sub 178 A=0.101 G=0.899
Latin American 1 Sub 928 A=0.126 G=0.874
Latin American 2 Sub 4992 A=0.1230 G=0.8770
South Asian Sub 5048 A=0.1638 G=0.8362
Other Sub 7232 A=0.1287 G=0.8713


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.118618 G=0.881382
Allele Frequency Aggregator Total Global 198012 A=0.128790 G=0.871210
Allele Frequency Aggregator European Sub 171292 A=0.129265 G=0.870735
Allele Frequency Aggregator African Sub 7770 A=0.0965 G=0.9035
Allele Frequency Aggregator Other Sub 7232 A=0.1287 G=0.8713
Allele Frequency Aggregator South Asian Sub 5048 A=0.1638 G=0.8362
Allele Frequency Aggregator Latin American 2 Sub 4992 A=0.1230 G=0.8770
Allele Frequency Aggregator Latin American 1 Sub 928 A=0.126 G=0.874
Allele Frequency Aggregator Asian Sub 750 A=0.161 G=0.839
gnomAD - Genomes Global Study-wide 140100 A=0.114590 G=0.885410
gnomAD - Genomes European Sub 75910 A=0.12106 G=0.87894
gnomAD - Genomes African Sub 41988 A=0.09891 G=0.90109
gnomAD - Genomes American Sub 13616 A=0.12331 G=0.87669
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.0903 G=0.9097
gnomAD - Genomes East Asian Sub 3108 A=0.1535 G=0.8465
gnomAD - Genomes Other Sub 2154 A=0.1184 G=0.8816
14KJPN JAPANESE Study-wide 28258 A=0.12234 G=0.87766
8.3KJPN JAPANESE Study-wide 16760 A=0.12315 G=0.87685
1000Genomes_30x Global Study-wide 6404 A=0.1302 G=0.8698
1000Genomes_30x African Sub 1786 A=0.0885 G=0.9115
1000Genomes_30x Europe Sub 1266 A=0.1327 G=0.8673
1000Genomes_30x South Asian Sub 1202 A=0.1780 G=0.8220
1000Genomes_30x East Asian Sub 1170 A=0.1547 G=0.8453
1000Genomes_30x American Sub 980 A=0.115 G=0.885
1000Genomes Global Study-wide 5008 A=0.1328 G=0.8672
1000Genomes African Sub 1322 A=0.0870 G=0.9130
1000Genomes East Asian Sub 1008 A=0.1508 G=0.8492
1000Genomes Europe Sub 1006 A=0.1332 G=0.8668
1000Genomes South Asian Sub 978 A=0.186 G=0.814
1000Genomes American Sub 694 A=0.118 G=0.882
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1105 G=0.8895
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1362 G=0.8638
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1327 G=0.8673
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1618 C=0.0000, G=0.8382
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.1176 G=0.8824
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.143 G=0.857
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.150 G=0.850
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.160 G=0.840
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.109 G=0.891
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.045 G=0.955
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.065 G=0.935
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.00 G=1.00
HapMap Global Study-wide 1884 A=0.1162 G=0.8838
HapMap American Sub 766 A=0.140 G=0.860
HapMap African Sub 690 A=0.075 G=0.925
HapMap Asian Sub 254 A=0.142 G=0.858
HapMap Europe Sub 174 A=0.138 G=0.862
Korean Genome Project KOREAN Study-wide 1832 A=0.1741 G=0.8259
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.120 G=0.880
Northern Sweden ACPOP Study-wide 600 A=0.123 G=0.877
SGDP_PRJ Global Study-wide 548 A=0.093 G=0.907
Qatari Global Study-wide 216 A=0.069 G=0.931
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.112 G=0.888
Siberian Global Study-wide 56 A=0.09 G=0.91
The Danish reference pan genome Danish Study-wide 40 A=0.07 G=0.93
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 14 A=0.43 G=0.57
Help

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 2 NC_000002.12:g.56223721A>C
GRCh38.p14 chr 2 NC_000002.12:g.56223721A>G
GRCh37.p13 chr 2 NC_000002.11:g.56450856A>C
GRCh37.p13 chr 2 NC_000002.11:g.56450856A>G
Gene: CCDC85A, coiled-coil domain containing 85A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CCDC85A transcript variant 2 NM_001080433.2:c.1240+302…

NM_001080433.2:c.1240+30281A>C

 		N/A Intron Variant
CCDC85A transcript variant 1 NM_001348512.1:c.1240+302…

NM_001348512.1:c.1240+30281A>C

 		N/A Intron Variant
CCDC85A transcript variant 3 NM_001348513.1:c.1240+302…

NM_001348513.1:c.1240+30281A>C

 		N/A Intron Variant
CCDC85A transcript variant 4 NM_001348514.1:c.1240+302…

NM_001348514.1:c.1240+30281A>C

 		N/A Intron Variant
CCDC85A transcript variant 5 NM_001348515.1:c.1240+302…

NM_001348515.1:c.1240+30281A>C

 		N/A Intron Variant
CCDC85A transcript variant 6 NM_001348516.1:c.1240+302…

NM_001348516.1:c.1240+30281A>C

 		N/A Intron Variant
CCDC85A transcript variant X1 XM_024452642.2:c.1153+302…

XM_024452642.2:c.1153+30281A>C

 		N/A Intron Variant
Help

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.

Not Reported in ClinVar
Help

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 G
GRCh38.p14 chr 2 NC_000002.12:g.56223721= NC_000002.12:g.56223721A>C NC_000002.12:g.56223721A>G
GRCh37.p13 chr 2 NC_000002.11:g.56450856= NC_000002.11:g.56450856A>C NC_000002.11:g.56450856A>G
CCDC85A transcript variant 2 NM_001080433.1:c.1240+30281= NM_001080433.1:c.1240+30281A>C NM_001080433.1:c.1240+30281A>G
CCDC85A transcript variant 2 NM_001080433.2:c.1240+30281= NM_001080433.2:c.1240+30281A>C NM_001080433.2:c.1240+30281A>G
CCDC85A transcript variant 1 NM_001348512.1:c.1240+30281= NM_001348512.1:c.1240+30281A>C NM_001348512.1:c.1240+30281A>G
CCDC85A transcript variant 3 NM_001348513.1:c.1240+30281= NM_001348513.1:c.1240+30281A>C NM_001348513.1:c.1240+30281A>G
CCDC85A transcript variant 4 NM_001348514.1:c.1240+30281= NM_001348514.1:c.1240+30281A>C NM_001348514.1:c.1240+30281A>G
CCDC85A transcript variant 5 NM_001348515.1:c.1240+30281= NM_001348515.1:c.1240+30281A>C NM_001348515.1:c.1240+30281A>G
CCDC85A transcript variant 6 NM_001348516.1:c.1240+30281= NM_001348516.1:c.1240+30281A>C NM_001348516.1:c.1240+30281A>G
CCDC85A transcript variant X1 XM_005264122.1:c.1240+30281= XM_005264122.1:c.1240+30281A>C XM_005264122.1:c.1240+30281A>G
CCDC85A transcript variant X2 XM_005264123.1:c.1240+30281= XM_005264123.1:c.1240+30281A>C XM_005264123.1:c.1240+30281A>G
CCDC85A transcript variant X3 XM_005264124.1:c.1240+30281= XM_005264124.1:c.1240+30281A>C XM_005264124.1:c.1240+30281A>G
CCDC85A transcript variant X1 XM_005264125.1:c.1240+30281= XM_005264125.1:c.1240+30281A>C XM_005264125.1:c.1240+30281A>G
CCDC85A transcript variant X5 XM_005264126.1:c.1240+30281= XM_005264126.1:c.1240+30281A>C XM_005264126.1:c.1240+30281A>G
CCDC85A transcript variant X6 XM_005264127.1:c.1240+30281= XM_005264127.1:c.1240+30281A>C XM_005264127.1:c.1240+30281A>G
CCDC85A transcript variant X1 XM_024452642.2:c.1153+30281= XM_024452642.2:c.1153+30281A>C XM_024452642.2:c.1153+30281A>G
Help

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#.

121 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9959057 Jul 11, 2003 (116)
2 WUGSC_SSAHASNP ss14502498 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss19451020 Feb 27, 2004 (120)
4 SSAHASNP ss21639013 Apr 05, 2004 (121)
5 PERLEGEN ss23670177 Sep 20, 2004 (123)
6 ILLUMINA ss67491382 Nov 30, 2006 (127)
7 ILLUMINA ss67850607 Nov 30, 2006 (127)
8 ILLUMINA ss68258132 Dec 12, 2006 (127)
9 ILLUMINA ss70882941 May 24, 2008 (130)
10 ILLUMINA ss71474075 May 17, 2007 (127)
11 ILLUMINA ss75741643 Dec 07, 2007 (129)
12 AFFY ss76699122 Dec 07, 2007 (129)
13 KRIBB_YJKIM ss84534390 Dec 15, 2007 (130)
14 HUMANGENOME_JCVI ss96399013 Feb 05, 2009 (130)
15 BGI ss106091655 Feb 05, 2009 (130)
16 1000GENOMES ss109543235 Jan 24, 2009 (130)
17 1000GENOMES ss110316542 Jan 24, 2009 (130)
18 ILLUMINA-UK ss117719563 Feb 14, 2009 (130)
19 ENSEMBL ss135846109 Dec 01, 2009 (131)
20 ILLUMINA ss154378754 Dec 01, 2009 (131)
21 GMI ss157098992 Dec 01, 2009 (131)
22 ILLUMINA ss159554613 Dec 01, 2009 (131)
23 ILLUMINA ss160803662 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss163475257 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss164448577 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss166639883 Jul 04, 2010 (132)
27 ILLUMINA ss174089808 Jul 04, 2010 (132)
28 BUSHMAN ss200483510 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss205574966 Jul 04, 2010 (132)
30 1000GENOMES ss219264731 Jul 14, 2010 (132)
31 1000GENOMES ss231182051 Jul 14, 2010 (132)
32 1000GENOMES ss238732869 Jul 15, 2010 (132)
33 BL ss253126995 May 09, 2011 (134)
34 GMI ss276481547 May 04, 2012 (137)
35 GMI ss284351264 Apr 25, 2013 (138)
36 PJP ss292274907 May 09, 2011 (134)
37 ILLUMINA ss481335502 May 04, 2012 (137)
38 ILLUMINA ss481360915 May 04, 2012 (137)
39 ILLUMINA ss482341170 Sep 08, 2015 (146)
40 ILLUMINA ss485462873 May 04, 2012 (137)
41 ILLUMINA ss537385249 Sep 08, 2015 (146)
42 TISHKOFF ss555586871 Apr 25, 2013 (138)
43 SSMP ss649171222 Apr 25, 2013 (138)
44 ILLUMINA ss778578406 Sep 08, 2015 (146)
45 ILLUMINA ss783176920 Sep 08, 2015 (146)
46 ILLUMINA ss784132319 Sep 08, 2015 (146)
47 ILLUMINA ss832436524 Sep 08, 2015 (146)
48 ILLUMINA ss833065780 Jul 13, 2019 (153)
49 ILLUMINA ss834035501 Sep 08, 2015 (146)
50 EVA-GONL ss976864019 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1069141080 Aug 21, 2014 (142)
52 1000GENOMES ss1297345774 Aug 21, 2014 (142)
53 DDI ss1428586908 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1578892961 Apr 01, 2015 (144)
55 EVA_DECODE ss1586275725 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1603575989 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1646570022 Apr 01, 2015 (144)
58 EVA_SVP ss1712458168 Apr 01, 2015 (144)
59 ILLUMINA ss1752362682 Sep 08, 2015 (146)
60 HAMMER_LAB ss1796795801 Sep 08, 2015 (146)
61 WEILL_CORNELL_DGM ss1920097001 Feb 12, 2016 (147)
62 GENOMED ss1968778071 Jul 19, 2016 (147)
63 JJLAB ss2020583168 Sep 14, 2016 (149)
64 USC_VALOUEV ss2148626642 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2230518083 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2624802219 Nov 08, 2017 (151)
67 ILLUMINA ss2633618537 Nov 08, 2017 (151)
68 GRF ss2703194381 Nov 08, 2017 (151)
69 GNOMAD ss2773772293 Nov 08, 2017 (151)
70 SWEGEN ss2989547052 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3024058262 Nov 08, 2017 (151)
72 CSHL ss3344243103 Nov 08, 2017 (151)
73 ILLUMINA ss3628070606 Oct 11, 2018 (152)
74 ILLUMINA ss3631585304 Oct 11, 2018 (152)
75 ILLUMINA ss3633201465 Oct 11, 2018 (152)
76 ILLUMINA ss3633913187 Oct 11, 2018 (152)
77 ILLUMINA ss3634767866 Oct 11, 2018 (152)
78 ILLUMINA ss3635599426 Oct 11, 2018 (152)
79 ILLUMINA ss3636454118 Oct 11, 2018 (152)
80 ILLUMINA ss3637351289 Oct 11, 2018 (152)
81 ILLUMINA ss3638261788 Oct 11, 2018 (152)
82 ILLUMINA ss3639136165 Oct 11, 2018 (152)
83 ILLUMINA ss3639873035 Oct 11, 2018 (152)
84 ILLUMINA ss3640475168 Oct 11, 2018 (152)
85 ILLUMINA ss3643231629 Oct 11, 2018 (152)
86 ILLUMINA ss3643921543 Oct 11, 2018 (152)
87 URBANLAB ss3647039895 Oct 11, 2018 (152)
88 EGCUT_WGS ss3657519623 Jul 13, 2019 (153)
89 EVA_DECODE ss3703942748 Jul 13, 2019 (153)
90 ACPOP ss3728458006 Jul 13, 2019 (153)
91 ILLUMINA ss3745067763 Jul 13, 2019 (153)
92 EVA ss3756793142 Jul 13, 2019 (153)
93 ILLUMINA ss3772564596 Jul 13, 2019 (153)
94 PACBIO ss3783870888 Jul 13, 2019 (153)
95 PACBIO ss3789457470 Jul 13, 2019 (153)
96 PACBIO ss3794330374 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3801165428 Jul 13, 2019 (153)
98 EVA ss3826996718 Apr 25, 2020 (154)
99 EVA ss3836908376 Apr 25, 2020 (154)
100 EVA ss3842324013 Apr 25, 2020 (154)
101 HGDP ss3847618944 Apr 25, 2020 (154)
102 SGDP_PRJ ss3852325099 Apr 25, 2020 (154)
103 KRGDB ss3897793862 Apr 25, 2020 (154)
104 KOGIC ss3947801898 Apr 25, 2020 (154)
105 EVA ss3984895375 Apr 26, 2021 (155)
106 EVA ss4016997566 Apr 26, 2021 (155)
107 TOPMED ss4506627932 Apr 26, 2021 (155)
108 TOMMO_GENOMICS ss5151475906 Apr 26, 2021 (155)
109 1000G_HIGH_COVERAGE ss5248148510 Oct 12, 2022 (156)
110 EVA ss5314737884 Oct 12, 2022 (156)
111 EVA ss5329096382 Oct 12, 2022 (156)
112 HUGCELL_USP ss5448346880 Oct 12, 2022 (156)
113 1000G_HIGH_COVERAGE ss5523415459 Oct 12, 2022 (156)
114 SANFORD_IMAGENETICS ss5628792492 Oct 12, 2022 (156)
115 TOMMO_GENOMICS ss5680131213 Oct 12, 2022 (156)
116 EVA ss5799532969 Oct 12, 2022 (156)
117 YY_MCH ss5802226264 Oct 12, 2022 (156)
118 EVA ss5820133002 Oct 12, 2022 (156)
119 EVA ss5852533622 Oct 12, 2022 (156)
120 EVA ss5930469325 Oct 12, 2022 (156)
121 EVA ss5955026397 Oct 12, 2022 (156)
122 1000Genomes NC_000002.11 - 56450856 Oct 11, 2018 (152)
123 1000Genomes_30x NC_000002.12 - 56223721 Oct 12, 2022 (156)
124 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 56450856 Oct 11, 2018 (152)
125 Genetic variation in the Estonian population NC_000002.11 - 56450856 Oct 11, 2018 (152)
126 The Danish reference pan genome NC_000002.11 - 56450856 Apr 25, 2020 (154)
127 gnomAD - Genomes NC_000002.12 - 56223721 Apr 26, 2021 (155)
128 Genome of the Netherlands Release 5 NC_000002.11 - 56450856 Apr 25, 2020 (154)
129 HGDP-CEPH-db Supplement 1 NC_000002.10 - 56304360 Apr 25, 2020 (154)
130 HapMap NC_000002.12 - 56223721 Apr 25, 2020 (154)
131 KOREAN population from KRGDB NC_000002.11 - 56450856 Apr 25, 2020 (154)
132 Korean Genome Project NC_000002.12 - 56223721 Apr 25, 2020 (154)
133 Northern Sweden NC_000002.11 - 56450856 Jul 13, 2019 (153)
134 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 56450856 Apr 26, 2021 (155)
135 Qatari NC_000002.11 - 56450856 Apr 25, 2020 (154)
136 SGDP_PRJ NC_000002.11 - 56450856 Apr 25, 2020 (154)
137 Siberian NC_000002.11 - 56450856 Apr 25, 2020 (154)
138 8.3KJPN NC_000002.11 - 56450856 Apr 26, 2021 (155)
139 14KJPN NC_000002.12 - 56223721 Oct 12, 2022 (156)
140 TopMed NC_000002.12 - 56223721 Apr 26, 2021 (155)
141 UK 10K study - Twins NC_000002.11 - 56450856 Oct 11, 2018 (152)
142 A Vietnamese Genetic Variation Database NC_000002.11 - 56450856 Jul 13, 2019 (153)
143 ALFA NC_000002.12 - 56223721 Apr 26, 2021 (155)
Help

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).

Associated ID History Updated (Build)
rs58860402 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4971256, ss3897793862 NC_000002.11:56450855:A:C NC_000002.12:56223720:A:C (self)
ss3639136165, ss3639873035, ss3643921543 NC_000002.9:56362506:A:G NC_000002.12:56223720:A:G (self)
296836, ss76699122, ss109543235, ss110316542, ss117719563, ss163475257, ss164448577, ss166639883, ss200483510, ss205574966, ss253126995, ss276481547, ss284351264, ss292274907, ss481335502, ss1586275725, ss1712458168, ss3643231629, ss3847618944 NC_000002.10:56304359:A:G NC_000002.12:56223720:A:G (self)
8293513, 4611650, 3257871, 5064781, 2027319, 4971256, 1742871, 121302, 2138931, 4342079, 1142996, 9445213, 4611650, 1002685, ss219264731, ss231182051, ss238732869, ss481360915, ss482341170, ss485462873, ss537385249, ss555586871, ss649171222, ss778578406, ss783176920, ss784132319, ss832436524, ss833065780, ss834035501, ss976864019, ss1069141080, ss1297345774, ss1428586908, ss1578892961, ss1603575989, ss1646570022, ss1752362682, ss1796795801, ss1920097001, ss1968778071, ss2020583168, ss2148626642, ss2624802219, ss2633618537, ss2703194381, ss2773772293, ss2989547052, ss3344243103, ss3628070606, ss3631585304, ss3633201465, ss3633913187, ss3634767866, ss3635599426, ss3636454118, ss3637351289, ss3638261788, ss3640475168, ss3657519623, ss3728458006, ss3745067763, ss3756793142, ss3772564596, ss3783870888, ss3789457470, ss3794330374, ss3826996718, ss3836908376, ss3852325099, ss3897793862, ss3984895375, ss4016997566, ss5151475906, ss5314737884, ss5329096382, ss5628792492, ss5799532969, ss5820133002, ss5955026397 NC_000002.11:56450855:A:G NC_000002.12:56223720:A:G (self)
10941394, 58862824, 1805281, 4179899, 13968317, 310450811, 5266409341, ss2230518083, ss3024058262, ss3647039895, ss3703942748, ss3801165428, ss3842324013, ss3947801898, ss4506627932, ss5248148510, ss5448346880, ss5523415459, ss5680131213, ss5802226264, ss5852533622, ss5930469325 NC_000002.12:56223720:A:G NC_000002.12:56223720:A:G (self)
ss9959057 NT_022184.12:35266787:A:G NC_000002.12:56223720:A:G (self)
ss14502498, ss19451020, ss21639013 NT_022184.13:35266787:A:G NC_000002.12:56223720:A:G (self)
ss23670177, ss67491382, ss67850607, ss68258132, ss70882941, ss71474075, ss75741643, ss84534390, ss96399013, ss106091655, ss135846109, ss154378754, ss157098992, ss159554613, ss160803662, ss174089808 NT_022184.15:35272742:A:G NC_000002.12:56223720:A:G (self)
Help

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

1 citation for rs6733298
PMID Title Author Year Journal
34159422 Host genetic control of gut microbiome composition. Bubier JA et al. 2021 Mammalian genome
Help

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
Top▲ Help

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07