Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs7416185

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:3806178 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.335729 (88864/264690, TOPMED)
T=0.43759 (7334/16760, 8.3KJPN)
T=0.4827 (4470/9260, ALFA) (+ 9 more)
T=0.3167 (1586/5008, 1000G)
T=0.4000 (1792/4480, Estonian)
T=0.3433 (1006/2930, KOREAN)
T=0.416 (415/998, GoNL)
T=0.438 (263/600, NorthernSweden)
T=0.226 (109/482, SGDP_PRJ)
T=0.269 (58/216, Qatari)
T=0.293 (61/208, Vietnamese)
T=0.43 (6/14, 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.3806178T>C
GRCh38.p13 chr 1 NC_000001.11:g.3806178T>G
GRCh37.p13 chr 1 NC_000001.10:g.3722742T>C
GRCh37.p13 chr 1 NC_000001.10:g.3722742T>G
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 9260 T=0.4827 C=0.5173, G=0.0000
European Sub 8384 T=0.4942 C=0.5058, G=0.0000
African Sub 648 T=0.187 C=0.813, G=0.000
African Others Sub 32 T=0.12 C=0.88, G=0.00
African American Sub 616 T=0.190 C=0.810, G=0.000
Asian Sub 12 T=0.83 C=0.17, G=0.00
East Asian Sub 6 T=0.8 C=0.2, G=0.0
Other Asian Sub 6 T=0.8 C=0.2, G=0.0
Latin American 1 Sub 14 T=1.00 C=0.00, G=0.00
Latin American 2 Sub 98 T=1.00 C=0.00, G=0.00
South Asian Sub 8 T=0.6 C=0.4, G=0.0
Other Sub 96 T=0.82 C=0.18, G=0.00


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 T=0.335729 C=0.664271
8.3KJPN JAPANESE Study-wide 16760 T=0.43759 C=0.56241
1000Genomes Global Study-wide 5008 T=0.3167 C=0.6833
1000Genomes African Sub 1322 T=0.1104 C=0.8896
1000Genomes East Asian Sub 1008 T=0.3393 C=0.6607
1000Genomes Europe Sub 1006 T=0.4304 C=0.5696
1000Genomes South Asian Sub 978 T=0.332 C=0.668
1000Genomes American Sub 694 T=0.490 C=0.510
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4000 C=0.6000
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3433 C=0.6567
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.416 C=0.584
Northern Sweden ACPOP Study-wide 600 T=0.438 C=0.562
SGDP_PRJ Global Study-wide 482 T=0.226 C=0.774
Qatari Global Study-wide 216 T=0.269 C=0.731
A Vietnamese Genetic Variation Database Global Study-wide 208 T=0.293 C=0.707
Siberian Global Study-wide 14 T=0.43 C=0.57
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 T= C G
GRCh38.p13 chr 1 NC_000001.11:g.3806178= NC_000001.11:g.3806178T>C NC_000001.11:g.3806178T>G
GRCh37.p13 chr 1 NC_000001.10:g.3722742= NC_000001.10:g.3722742T>C NC_000001.10:g.3722742T>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#.

52 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss11204223 Jul 11, 2003 (116)
2 SC_SNP ss12992567 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss16409082 Feb 27, 2004 (120)
4 ABI ss41348115 Mar 15, 2006 (126)
5 HGSV ss77472313 Dec 06, 2007 (129)
6 HGSV ss82880301 Dec 14, 2007 (130)
7 HGSV ss83575405 Dec 14, 2007 (130)
8 HGSV ss85345400 Dec 14, 2007 (130)
9 BCMHGSC_JDW ss87174318 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss97915468 Feb 04, 2009 (130)
11 BUSHMAN ss197924879 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss205527172 Jul 04, 2010 (132)
13 BL ss252880303 May 09, 2011 (134)
14 GMI ss275691423 May 04, 2012 (137)
15 GMI ss283990998 Apr 25, 2013 (138)
16 PJP ss290498299 May 09, 2011 (134)
17 1000GENOMES ss328376511 May 09, 2011 (134)
18 TISHKOFF ss553734651 Apr 25, 2013 (138)
19 SSMP ss647536417 Apr 25, 2013 (138)
20 EVA-GONL ss974796383 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1067627260 Aug 21, 2014 (142)
22 1000GENOMES ss1289451455 Aug 21, 2014 (142)
23 DDI ss1425692977 Apr 01, 2015 (144)
24 HAMMER_LAB ss1793784988 Sep 08, 2015 (146)
25 WEILL_CORNELL_DGM ss1917991924 Feb 12, 2016 (147)
26 JJLAB ss2019512094 Sep 14, 2016 (149)
27 USC_VALOUEV ss2147502480 Dec 20, 2016 (150)
28 HUMAN_LONGEVITY ss2159574214 Dec 20, 2016 (150)
29 TOPMED ss2321729112 Dec 20, 2016 (150)
30 SYSTEMSBIOZJU ss2624271803 Nov 08, 2017 (151)
31 GRF ss2697396514 Nov 08, 2017 (151)
32 GNOMAD ss2750971696 Nov 08, 2017 (151)
33 SWEGEN ss2986201218 Nov 08, 2017 (151)
34 TOPMED ss3067125220 Nov 08, 2017 (151)
35 CSHL ss3343288907 Nov 08, 2017 (151)
36 OMUKHERJEE_ADBS ss3646220204 Oct 11, 2018 (152)
37 URBANLAB ss3646586718 Oct 11, 2018 (152)
38 EGCUT_WGS ss3654302436 Jul 12, 2019 (153)
39 EVA_DECODE ss3686047090 Jul 12, 2019 (153)
40 ACPOP ss3726739970 Jul 12, 2019 (153)
41 EVA ss3745755238 Jul 12, 2019 (153)
42 PACBIO ss3783308748 Jul 12, 2019 (153)
43 PACBIO ss3788985632 Jul 12, 2019 (153)
44 PACBIO ss3793858263 Jul 12, 2019 (153)
45 KHV_HUMAN_GENOMES ss3798776936 Jul 12, 2019 (153)
46 EVA ss3825993940 Apr 25, 2020 (154)
47 EVA ss3836384132 Apr 25, 2020 (154)
48 EVA ss3841788296 Apr 25, 2020 (154)
49 SGDP_PRJ ss3848069416 Apr 25, 2020 (154)
50 KRGDB ss3892930955 Apr 25, 2020 (154)
51 TOPMED ss4437303706 Apr 25, 2021 (155)
52 TOMMO_GENOMICS ss5142201446 Apr 25, 2021 (155)
53 1000Genomes NC_000001.10 - 3722742 Oct 11, 2018 (152)
54 Genetic variation in the Estonian population NC_000001.10 - 3722742 Oct 11, 2018 (152)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 862142 (NC_000001.11:3806177:T:C 93171/139860)
Row 862143 (NC_000001.11:3806177:T:G 0/139928)

- Apr 25, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 862142 (NC_000001.11:3806177:T:C 93171/139860)
Row 862143 (NC_000001.11:3806177:T:G 0/139928)

- Apr 25, 2021 (155)
57 Genome of the Netherlands Release 5 NC_000001.10 - 3722742 Apr 25, 2020 (154)
58 KOREAN population from KRGDB NC_000001.10 - 3722742 Apr 25, 2020 (154)
59 Northern Sweden NC_000001.10 - 3722742 Jul 12, 2019 (153)
60 Qatari NC_000001.10 - 3722742 Apr 25, 2020 (154)
61 SGDP_PRJ NC_000001.10 - 3722742 Apr 25, 2020 (154)
62 Siberian NC_000001.10 - 3722742 Apr 25, 2020 (154)
63 8.3KJPN NC_000001.10 - 3722742 Apr 25, 2021 (155)
64 TopMed NC_000001.11 - 3806178 Apr 25, 2021 (155)
65 A Vietnamese Genetic Variation Database NC_000001.10 - 3722742 Jul 12, 2019 (153)
66 ALFA NC_000001.11 - 3806178 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).

Associated ID History Updated (Build)
rs57835441 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77472313, ss82880301, ss83575405, ss85345400 NC_000001.8:3745898:T:C NC_000001.11:3806177:T:C (self)
ss87174318, ss197924879, ss205527172, ss252880303, ss275691423, ss283990998, ss290498299 NC_000001.9:3712601:T:C NC_000001.11:3806177:T:C (self)
119477, 40684, 22997, 108349, 24835, 33854, 86396, 18834, 170753, 11283, ss328376511, ss553734651, ss647536417, ss974796383, ss1067627260, ss1289451455, ss1425692977, ss1793784988, ss1917991924, ss2019512094, ss2147502480, ss2321729112, ss2624271803, ss2697396514, ss2750971696, ss2986201218, ss3343288907, ss3646220204, ss3654302436, ss3726739970, ss3745755238, ss3783308748, ss3788985632, ss3793858263, ss3825993940, ss3836384132, ss3848069416, ss3892930955, ss5142201446 NC_000001.10:3722741:T:C NC_000001.11:3806177:T:C (self)
566508, 910041, 3799604685, ss2159574214, ss3067125220, ss3646586718, ss3686047090, ss3798776936, ss3841788296, ss4437303706 NC_000001.11:3806177:T:C NC_000001.11:3806177:T:C (self)
ss11204223, ss12992567, ss16409082 NT_004321.15:1029515:T:C NC_000001.11:3806177:T:C (self)
ss41348115, ss97915468 NT_004350.19:3201373:T:C NC_000001.11:3806177:T:C (self)
3799604685 NC_000001.11:3806177:T:G NC_000001.11:3806177:T:G
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 rs7416185

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