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dbSNP Short Genetic Variations

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.

rs2606418

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:2954285 (GRCh38.p13) 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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.381805 (101060/264690, TOPMED)
G=0.312368 (77068/246722, ALFA)
G=0.370052 (51805/139994, GnomAD) (+ 19 more)
G=0.45244 (35581/78642, PAGE_STUDY)
A=0.46677 (7823/16760, 8.3KJPN)
G=0.4279 (2143/5008, 1000G)
G=0.3817 (1710/4480, Estonian)
G=0.3025 (1166/3854, ALSPAC)
G=0.2975 (1103/3708, TWINSUK)
G=0.4481 (1313/2930, KOREAN)
G=0.4367 (800/1832, Korea1K)
G=0.3582 (404/1128, Daghestan)
G=0.292 (291/998, GoNL)
G=0.372 (273/734, PRJEB37584)
G=0.355 (213/600, NorthernSweden)
A=0.341 (129/378, SGDP_PRJ)
G=0.429 (138/322, HapMap)
G=0.366 (79/216, Qatari)
G=0.491 (105/214, Vietnamese)
G=0.34 (22/64, Ancient Sardinia)
G=0.20 (8/40, GENOME_DK)
A=0.38 (13/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.2954285A>C
GRCh38.p13 chr 1 NC_000001.11:g.2954285A>G
GRCh38.p13 chr 1 NC_000001.11:g.2954285A>T
GRCh37.p13 chr 1 NC_000001.10:g.2870850A>C
GRCh37.p13 chr 1 NC_000001.10:g.2870850A>G
GRCh37.p13 chr 1 NC_000001.10:g.2870850A>T
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 246722 A=0.687632 G=0.312368
European Sub 217504 A=0.704028 G=0.295972
African Sub 9034 A=0.5133 G=0.4867
African Others Sub 346 A=0.465 G=0.535
African American Sub 8688 A=0.5152 G=0.4848
Asian Sub 3850 A=0.5613 G=0.4387
East Asian Sub 3118 A=0.5532 G=0.4468
Other Asian Sub 732 A=0.596 G=0.404
Latin American 1 Sub 1028 A=0.5827 G=0.4173
Latin American 2 Sub 6540 A=0.5223 G=0.4777
South Asian Sub 368 A=0.641 G=0.359
Other Sub 8398 A=0.6521 G=0.3479


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=0.618195 G=0.381805
gnomAD - Genomes Global Study-wide 139994 A=0.629948 G=0.370052
gnomAD - Genomes European Sub 75846 A=0.69285 G=0.30715
gnomAD - Genomes African Sub 41938 A=0.51726 G=0.48274
gnomAD - Genomes American Sub 13620 A=0.61424 G=0.38576
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.7278 G=0.2722
gnomAD - Genomes East Asian Sub 3126 A=0.5803 G=0.4197
gnomAD - Genomes Other Sub 2146 A=0.6295 G=0.3705
The PAGE Study Global Study-wide 78642 A=0.54756 G=0.45244
The PAGE Study AfricanAmerican Sub 32484 A=0.51896 G=0.48104
The PAGE Study Mexican Sub 10804 A=0.51879 G=0.48121
The PAGE Study Asian Sub 8314 A=0.4923 G=0.5077
The PAGE Study PuertoRican Sub 7912 A=0.5853 G=0.4147
The PAGE Study NativeHawaiian Sub 4534 A=0.7309 G=0.2691
The PAGE Study Cuban Sub 4222 A=0.6251 G=0.3749
The PAGE Study Dominican Sub 3826 A=0.5829 G=0.4171
The PAGE Study CentralAmerican Sub 2450 A=0.5620 G=0.4380
The PAGE Study SouthAmerican Sub 1982 A=0.5404 G=0.4596
The PAGE Study NativeAmerican Sub 1260 A=0.5770 G=0.4230
The PAGE Study SouthAsian Sub 854 A=0.604 G=0.396
8.3KJPN JAPANESE Study-wide 16760 A=0.46677 G=0.53323
1000Genomes Global Study-wide 5008 A=0.5721 G=0.4279
1000Genomes African Sub 1322 A=0.4743 G=0.5257
1000Genomes East Asian Sub 1008 A=0.4782 G=0.5218
1000Genomes Europe Sub 1006 A=0.7137 G=0.2863
1000Genomes South Asian Sub 978 A=0.645 G=0.355
1000Genomes American Sub 694 A=0.586 G=0.414
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6183 G=0.3817
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6975 G=0.3025
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7025 G=0.2975
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5519 C=0.0000, G=0.4481, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.5633 G=0.4367
Genome-wide autozygosity in Daghestan Global Study-wide 1128 A=0.6418 G=0.3582
Genome-wide autozygosity in Daghestan Daghestan Sub 624 A=0.617 G=0.383
Genome-wide autozygosity in Daghestan Near_East Sub 142 A=0.711 G=0.289
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.598 G=0.402
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.731 G=0.269
Genome-wide autozygosity in Daghestan South Asian Sub 96 A=0.65 G=0.35
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.67 G=0.33
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.708 G=0.292
CNV burdens in cranial meningiomas Global Study-wide 734 A=0.628 G=0.372
CNV burdens in cranial meningiomas CRM Sub 734 A=0.628 G=0.372
Northern Sweden ACPOP Study-wide 600 A=0.645 G=0.355
SGDP_PRJ Global Study-wide 378 A=0.341 G=0.659
HapMap Global Study-wide 322 A=0.571 G=0.429
HapMap African Sub 118 A=0.466 G=0.534
HapMap American Sub 116 A=0.750 G=0.250
HapMap Asian Sub 88 A=0.48 G=0.52
Qatari Global Study-wide 216 A=0.634 G=0.366
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.509 G=0.491
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 64 A=0.66 G=0.34
The Danish reference pan genome Danish Study-wide 40 A=0.80 G=0.20
Siberian Global Study-wide 34 A=0.38 G=0.62
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 T
GRCh38.p13 chr 1 NC_000001.11:g.2954285= NC_000001.11:g.2954285A>C NC_000001.11:g.2954285A>G NC_000001.11:g.2954285A>T
GRCh37.p13 chr 1 NC_000001.10:g.2870850= NC_000001.10:g.2870850A>C NC_000001.10:g.2870850A>G NC_000001.10:g.2870850A>T
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#.

95 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3667438 Sep 28, 2001 (100)
2 WI_SSAHASNP ss11351133 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss17354579 Feb 27, 2004 (120)
4 PERLEGEN ss23154506 Sep 20, 2004 (123)
5 ABI ss44014737 Mar 13, 2006 (126)
6 ILLUMINA ss65722922 Oct 14, 2006 (127)
7 BGI ss102714428 Dec 01, 2009 (131)
8 ILLUMINA ss120244576 Dec 01, 2009 (131)
9 GMI ss154550087 Dec 01, 2009 (131)
10 ILLUMINA ss160562981 Dec 01, 2009 (131)
11 ENSEMBL ss161243664 Dec 01, 2009 (131)
12 BUSHMAN ss197912238 Jul 04, 2010 (132)
13 1000GENOMES ss218198347 Jul 14, 2010 (132)
14 1000GENOMES ss230400893 Jul 14, 2010 (132)
15 1000GENOMES ss238120094 Jul 15, 2010 (132)
16 ILLUMINA ss244255178 Jul 04, 2010 (132)
17 BL ss252875365 May 09, 2011 (134)
18 GMI ss275688593 May 04, 2012 (137)
19 PJP ss290496933 May 09, 2011 (134)
20 ILLUMINA ss480615640 May 04, 2012 (137)
21 ILLUMINA ss480630127 May 04, 2012 (137)
22 ILLUMINA ss481466189 Sep 08, 2015 (146)
23 ILLUMINA ss485102892 May 04, 2012 (137)
24 ILLUMINA ss537108354 Sep 08, 2015 (146)
25 TISHKOFF ss553727055 Apr 25, 2013 (138)
26 SSMP ss647530476 Apr 25, 2013 (138)
27 ILLUMINA ss778873947 Aug 21, 2014 (142)
28 ILLUMINA ss782997735 Aug 21, 2014 (142)
29 ILLUMINA ss783958305 Aug 21, 2014 (142)
30 ILLUMINA ss832254736 Apr 01, 2015 (144)
31 ILLUMINA ss834334888 Aug 21, 2014 (142)
32 EVA-GONL ss974787486 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1067621895 Aug 21, 2014 (142)
34 1000GENOMES ss1289418734 Aug 21, 2014 (142)
35 HAMMER_LAB ss1397238557 Sep 08, 2015 (146)
36 DDI ss1425690347 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1573857135 Apr 01, 2015 (144)
38 EVA_DECODE ss1584147002 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1599410884 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1642404917 Apr 01, 2015 (144)
41 ILLUMINA ss1751914140 Sep 08, 2015 (146)
42 HAMMER_LAB ss1793757063 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1917982440 Feb 12, 2016 (147)
44 ILLUMINA ss1945982500 Feb 12, 2016 (147)
45 ILLUMINA ss1958233477 Feb 12, 2016 (147)
46 GENOMED ss1966669896 Jul 19, 2016 (147)
47 JJLAB ss2019507406 Sep 14, 2016 (149)
48 USC_VALOUEV ss2147497387 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2159507164 Dec 20, 2016 (150)
50 TOPMED ss2321662775 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2624269571 Nov 08, 2017 (151)
52 ILLUMINA ss2632467416 Nov 08, 2017 (151)
53 GRF ss2697390955 Nov 08, 2017 (151)
54 ILLUMINA ss2710663881 Nov 08, 2017 (151)
55 GNOMAD ss2750884285 Nov 08, 2017 (151)
56 SWEGEN ss2986188290 Nov 08, 2017 (151)
57 ILLUMINA ss3021046406 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3023517491 Nov 08, 2017 (151)
59 TOPMED ss3066933915 Nov 08, 2017 (151)
60 CSHL ss3343284635 Nov 08, 2017 (151)
61 ILLUMINA ss3625523729 Oct 11, 2018 (152)
62 ILLUMINA ss3626009998 Oct 11, 2018 (152)
63 ILLUMINA ss3630506992 Oct 11, 2018 (152)
64 ILLUMINA ss3632878330 Oct 11, 2018 (152)
65 ILLUMINA ss3633571882 Oct 11, 2018 (152)
66 ILLUMINA ss3634303005 Oct 11, 2018 (152)
67 ILLUMINA ss3635266070 Oct 11, 2018 (152)
68 ILLUMINA ss3635979368 Oct 11, 2018 (152)
69 ILLUMINA ss3637016418 Oct 11, 2018 (152)
70 ILLUMINA ss3640010370 Oct 11, 2018 (152)
71 ILLUMINA ss3640973472 Oct 11, 2018 (152)
72 ILLUMINA ss3641267285 Oct 11, 2018 (152)
73 ILLUMINA ss3644478354 Oct 11, 2018 (152)
74 ILLUMINA ss3651368999 Oct 11, 2018 (152)
75 EGCUT_WGS ss3654289256 Jul 12, 2019 (153)
76 EVA_DECODE ss3686031055 Jul 12, 2019 (153)
77 ILLUMINA ss3724990061 Jul 12, 2019 (153)
78 ACPOP ss3726732627 Jul 12, 2019 (153)
79 ILLUMINA ss3744040936 Jul 12, 2019 (153)
80 ILLUMINA ss3744603931 Jul 12, 2019 (153)
81 EVA ss3745744317 Jul 12, 2019 (153)
82 PAGE_CC ss3770780057 Jul 12, 2019 (153)
83 ILLUMINA ss3772105660 Jul 12, 2019 (153)
84 KHV_HUMAN_GENOMES ss3798766746 Jul 12, 2019 (153)
85 EVA ss3825989906 Apr 25, 2020 (154)
86 EVA ss3836382210 Apr 25, 2020 (154)
87 EVA ss3841786330 Apr 25, 2020 (154)
88 SGDP_PRJ ss3848050346 Apr 25, 2020 (154)
89 KRGDB ss3892909916 Apr 25, 2020 (154)
90 KOGIC ss3943673549 Apr 25, 2020 (154)
91 EVA ss3984450990 Apr 25, 2021 (155)
92 EVA ss3984774536 Apr 25, 2021 (155)
93 EVA ss4016889744 Apr 25, 2021 (155)
94 TOPMED ss4437053694 Apr 25, 2021 (155)
95 TOMMO_GENOMICS ss5142163790 Apr 25, 2021 (155)
96 1000Genomes NC_000001.10 - 2870850 Oct 11, 2018 (152)
97 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 2870850 Oct 11, 2018 (152)
98 Genome-wide autozygosity in Daghestan NC_000001.9 - 2860710 Apr 25, 2020 (154)
99 Genetic variation in the Estonian population NC_000001.10 - 2870850 Oct 11, 2018 (152)
100 The Danish reference pan genome NC_000001.10 - 2870850 Apr 25, 2020 (154)
101 gnomAD - Genomes NC_000001.11 - 2954285 Apr 25, 2021 (155)
102 Genome of the Netherlands Release 5 NC_000001.10 - 2870850 Apr 25, 2020 (154)
103 HapMap NC_000001.11 - 2954285 Apr 25, 2020 (154)
104 KOREAN population from KRGDB NC_000001.10 - 2870850 Apr 25, 2020 (154)
105 Korean Genome Project NC_000001.11 - 2954285 Apr 25, 2020 (154)
106 Northern Sweden NC_000001.10 - 2870850 Jul 12, 2019 (153)
107 The PAGE Study NC_000001.11 - 2954285 Jul 12, 2019 (153)
108 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 2870850 Apr 25, 2021 (155)
109 CNV burdens in cranial meningiomas NC_000001.10 - 2870850 Apr 25, 2021 (155)
110 Qatari NC_000001.10 - 2870850 Apr 25, 2020 (154)
111 SGDP_PRJ NC_000001.10 - 2870850 Apr 25, 2020 (154)
112 Siberian NC_000001.10 - 2870850 Apr 25, 2020 (154)
113 8.3KJPN NC_000001.10 - 2870850 Apr 25, 2021 (155)
114 TopMed NC_000001.11 - 2954285 Apr 25, 2021 (155)
115 UK 10K study - Twins NC_000001.10 - 2870850 Oct 11, 2018 (152)
116 A Vietnamese Genetic Variation Database NC_000001.10 - 2870850 Jul 12, 2019 (153)
117 ALFA NC_000001.11 - 2954285 Apr 25, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
87310, ss3892909916 NC_000001.10:2870849:A:C NC_000001.11:2954284:A:C (self)
44, ss160562981, ss197912238, ss244255178, ss252875365, ss275688593, ss290496933, ss480615640, ss1397238557, ss1584147002 NC_000001.9:2860709:A:G NC_000001.11:2954284:A:G (self)
85813, 35843, 27504, 1364369, 15013, 87310, 17492, 463, 290, 24370, 67326, 13741, 133097, 35843, 7350, ss218198347, ss230400893, ss238120094, ss480630127, ss481466189, ss485102892, ss537108354, ss553727055, ss647530476, ss778873947, ss782997735, ss783958305, ss832254736, ss834334888, ss974787486, ss1067621895, ss1289418734, ss1425690347, ss1573857135, ss1599410884, ss1642404917, ss1751914140, ss1793757063, ss1917982440, ss1945982500, ss1958233477, ss1966669896, ss2019507406, ss2147497387, ss2321662775, ss2624269571, ss2632467416, ss2697390955, ss2710663881, ss2750884285, ss2986188290, ss3021046406, ss3343284635, ss3625523729, ss3626009998, ss3630506992, ss3632878330, ss3633571882, ss3634303005, ss3635266070, ss3635979368, ss3637016418, ss3640010370, ss3640973472, ss3641267285, ss3644478354, ss3651368999, ss3654289256, ss3726732627, ss3744040936, ss3744603931, ss3745744317, ss3772105660, ss3825989906, ss3836382210, ss3848050346, ss3892909916, ss3984450990, ss3984774536, ss4016889744, ss5142163790 NC_000001.10:2870849:A:G NC_000001.11:2954284:A:G (self)
648950, 1609, 51550, 1526, 406911, 660029, 6072572687, ss2159507164, ss3023517491, ss3066933915, ss3686031055, ss3724990061, ss3770780057, ss3798766746, ss3841786330, ss3943673549, ss4437053694 NC_000001.11:2954284:A:G NC_000001.11:2954284:A:G (self)
ss11351133, ss17354579 NT_004321.15:177624:A:G NC_000001.11:2954284:A:G (self)
ss3667438, ss23154506, ss44014737, ss65722922, ss102714428, ss120244576, ss154550087, ss161243664 NT_004350.19:2349481:A:G NC_000001.11:2954284:A:G (self)
87310, ss3892909916 NC_000001.10:2870849:A:T NC_000001.11:2954284:A:T (self)
Help

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

No publications for rs2606418

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.post596+ae089ad