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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.

rs6671445

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:886568 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.056247 (14888/264690, TOPMED)
T=0.049112 (6887/140230, GnomAD)
T=0.00000 (0/77834, PAGE_STUDY) (+ 12 more)
T=0.02602 (461/17716, ALFA)
T=0.12058 (2021/16760, 8.3KJPN)
T=0.0741 (371/5008, 1000G)
T=0.0026 (10/3854, ALSPAC)
T=0.0027 (10/3708, TWINSUK)
T=0.0952 (279/2930, KOREAN)
T=0.002 (2/998, GoNL)
T=0.000 (0/600, NorthernSweden)
T=0.085 (46/540, SGDP_PRJ)
T=0.046 (10/216, Qatari)
T=0.07 (4/54, Siberian)
T=0.00 (0/40, GENOME_DK)
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.886568T>A
GRCh38.p13 chr 1 NC_000001.11:g.886568T>C
GRCh37.p13 chr 1 NC_000001.10:g.821948T>A
GRCh37.p13 chr 1 NC_000001.10:g.821948T>C
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 17716 T=0.02602 A=0.00000, C=0.97398
European Sub 13630 T=0.00315 A=0.00000, C=0.99685
African Sub 2432 T=0.1287 A=0.0000, C=0.8713
African Others Sub 90 T=0.16 A=0.00, C=0.84
African American Sub 2342 T=0.1277 A=0.0000, C=0.8723
Asian Sub 112 T=0.062 A=0.000, C=0.938
East Asian Sub 86 T=0.07 A=0.00, C=0.93
Other Asian Sub 26 T=0.04 A=0.00, C=0.96
Latin American 1 Sub 146 T=0.075 A=0.000, C=0.925
Latin American 2 Sub 610 T=0.080 A=0.000, C=0.920
South Asian Sub 98 T=0.03 A=0.00, C=0.97
Other Sub 688 T=0.051 A=0.000, C=0.949


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=0.056247 C=0.943753
gnomAD - Genomes Global Study-wide 140230 T=0.049112 C=0.950888
gnomAD - Genomes European Sub 75946 T=0.00223 C=0.99777
gnomAD - Genomes African Sub 42016 T=0.12843 C=0.87157
gnomAD - Genomes American Sub 13662 T=0.07129 C=0.92871
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0090 C=0.9910
gnomAD - Genomes East Asian Sub 3132 T=0.0645 C=0.9355
gnomAD - Genomes Other Sub 2150 T=0.0540 C=0.9460
The PAGE Study Global Study-wide 77834 T=0.00000 C=1.00000
The PAGE Study AfricanAmerican Sub 32038 T=0.00000 C=1.00000
The PAGE Study Mexican Sub 10742 T=0.00000 C=1.00000
The PAGE Study Asian Sub 8202 T=0.0000 C=1.0000
The PAGE Study PuertoRican Sub 7850 T=0.0000 C=1.0000
The PAGE Study NativeHawaiian Sub 4500 T=0.0000 C=1.0000
The PAGE Study Cuban Sub 4216 T=0.0000 C=1.0000
The PAGE Study Dominican Sub 3802 T=0.0000 C=1.0000
The PAGE Study CentralAmerican Sub 2418 T=0.0000 C=1.0000
The PAGE Study SouthAmerican Sub 1956 T=0.0000 C=1.0000
The PAGE Study NativeAmerican Sub 1254 T=0.0000 C=1.0000
The PAGE Study SouthAsian Sub 856 T=0.000 C=1.000
8.3KJPN JAPANESE Study-wide 16760 T=0.12058 C=0.87942
1000Genomes Global Study-wide 5008 T=0.0741 C=0.9259
1000Genomes African Sub 1322 T=0.1505 C=0.8495
1000Genomes East Asian Sub 1008 T=0.0774 C=0.9226
1000Genomes Europe Sub 1006 T=0.0040 C=0.9960
1000Genomes South Asian Sub 978 T=0.030 C=0.970
1000Genomes American Sub 694 T=0.088 C=0.912
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0026 C=0.9974
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0027 C=0.9973
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0952 C=0.9048
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.002 C=0.998
Northern Sweden ACPOP Study-wide 600 T=0.000 C=1.000
SGDP_PRJ Global Study-wide 540 T=0.085 C=0.915
Qatari Global Study-wide 216 T=0.046 C=0.954
Siberian Global Study-wide 54 T=0.07 C=0.93
The Danish reference pan genome Danish Study-wide 40 T=0.00 C=1.00
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= A C
GRCh38.p13 chr 1 NC_000001.11:g.886568= NC_000001.11:g.886568T>A NC_000001.11:g.886568T>C
GRCh37.p13 chr 1 NC_000001.10:g.821948= NC_000001.10:g.821948T>A NC_000001.10:g.821948T>C
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#.

61 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9839047 Jul 11, 2003 (116)
2 SSAHASNP ss22883112 Apr 05, 2004 (121)
3 ABI ss41210469 Mar 15, 2006 (126)
4 HGSV ss77623113 Dec 06, 2007 (129)
5 HGSV ss85616537 Dec 15, 2007 (130)
6 BCMHGSC_JDW ss87156394 Mar 23, 2008 (129)
7 HUMANGENOME_JCVI ss97913298 Feb 05, 2009 (130)
8 BGI ss105111787 Dec 01, 2009 (131)
9 1000GENOMES ss107938308 Jan 22, 2009 (130)
10 ILLUMINA-UK ss118438563 Feb 14, 2009 (130)
11 ENSEMBL ss137752766 Dec 01, 2009 (131)
12 ENSEMBL ss144238711 Dec 01, 2009 (131)
13 GMI ss154523313 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss162980962 Jul 04, 2010 (132)
15 BUSHMAN ss197885765 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss205262671 Jul 04, 2010 (132)
17 1000GENOMES ss218190706 Jul 14, 2010 (132)
18 1000GENOMES ss238115210 Jul 15, 2010 (132)
19 BL ss252864724 May 09, 2011 (134)
20 GMI ss275681342 May 04, 2012 (137)
21 GMI ss283987585 Apr 25, 2013 (138)
22 PJP ss290493885 May 09, 2011 (134)
23 SSMP ss647516747 Apr 25, 2013 (138)
24 EVA-GONL ss974769792 Aug 21, 2014 (142)
25 1000GENOMES ss1289340913 Aug 21, 2014 (142)
26 DDI ss1425685064 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1573851264 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1599378695 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1642372728 Apr 01, 2015 (144)
30 HAMMER_LAB ss1793707924 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1917961092 Feb 12, 2016 (147)
32 ILLUMINA ss1958230052 Feb 12, 2016 (147)
33 GENOMED ss1966667409 Jul 19, 2016 (147)
34 JJLAB ss2019498564 Sep 14, 2016 (149)
35 USC_VALOUEV ss2147484807 Dec 20, 2016 (150)
36 TOPMED ss2321506282 Dec 20, 2016 (150)
37 GRF ss2697375571 Nov 08, 2017 (151)
38 GNOMAD ss2750644316 Nov 08, 2017 (151)
39 SWEGEN ss2986150159 Nov 08, 2017 (151)
40 ILLUMINA ss3021043077 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3023513750 Nov 08, 2017 (151)
42 TOPMED ss3066410828 Nov 08, 2017 (151)
43 TOPMED ss3066410829 Nov 08, 2017 (151)
44 CSHL ss3343272943 Nov 08, 2017 (151)
45 URBANLAB ss3646581320 Oct 11, 2018 (152)
46 ILLUMINA ss3651365128 Oct 11, 2018 (152)
47 EVA_DECODE ss3685992800 Jul 12, 2019 (153)
48 ACPOP ss3726716638 Jul 12, 2019 (153)
49 EVA ss3745721372 Jul 12, 2019 (153)
50 PAGE_CC ss3770778537 Jul 12, 2019 (153)
51 PACBIO ss3783302448 Jul 12, 2019 (153)
52 PACBIO ss3788980115 Jul 12, 2019 (153)
53 PACBIO ss3793852676 Jul 12, 2019 (153)
54 KHV_HUMAN_GENOMES ss3798744079 Jul 12, 2019 (153)
55 EVA ss3825981568 Apr 25, 2020 (154)
56 EVA ss3836378503 Apr 25, 2020 (154)
57 EVA ss3841782513 Apr 25, 2020 (154)
58 SGDP_PRJ ss3847997000 Apr 25, 2020 (154)
59 KRGDB ss3892838146 Apr 25, 2020 (154)
60 TOPMED ss4436444995 Apr 25, 2021 (155)
61 TOMMO_GENOMICS ss5142054763 Apr 25, 2021 (155)
62 1000Genomes NC_000001.10 - 821948 Oct 11, 2018 (152)
63 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 821948 Oct 11, 2018 (152)
64 The Danish reference pan genome NC_000001.10 - 821948 Apr 25, 2020 (154)
65 gnomAD - Genomes NC_000001.11 - 886568 Apr 25, 2021 (155)
66 Genome of the Netherlands Release 5 NC_000001.10 - 821948 Apr 25, 2020 (154)
67 KOREAN population from KRGDB NC_000001.10 - 821948 Apr 25, 2020 (154)
68 Northern Sweden NC_000001.10 - 821948 Jul 12, 2019 (153)
69 The PAGE Study NC_000001.11 - 886568 Jul 12, 2019 (153)
70 Qatari NC_000001.10 - 821948 Apr 25, 2020 (154)
71 SGDP_PRJ NC_000001.10 - 821948 Apr 25, 2020 (154)
72 Siberian NC_000001.10 - 821948 Apr 25, 2020 (154)
73 8.3KJPN NC_000001.10 - 821948 Apr 25, 2021 (155)
74 TopMed NC_000001.11 - 886568 Apr 25, 2021 (155)
75 UK 10K study - Twins NC_000001.10 - 821948 Oct 11, 2018 (152)
76 ALFA NC_000001.11 - 886568 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)
rs59449860 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3928820403, ss3066410828 NC_000001.11:886567:T:A NC_000001.11:886567:T:A (self)
ss77623113, ss85616537 NC_000001.8:861810:T:C NC_000001.11:886567:T:C (self)
ss87156394, ss107938308, ss118438563, ss162980962, ss197885765, ss205262671, ss252864724, ss275681342, ss283987585, ss290493885 NC_000001.9:811810:T:C NC_000001.11:886567:T:C (self)
5707, 694, 1358498, 764, 15540, 1503, 3022, 13980, 1161, 24070, 694, ss218190706, ss238115210, ss647516747, ss974769792, ss1289340913, ss1425685064, ss1573851264, ss1599378695, ss1642372728, ss1793707924, ss1917961092, ss1958230052, ss1966667409, ss2019498564, ss2147484807, ss2321506282, ss2697375571, ss2750644316, ss2986150159, ss3021043077, ss3343272943, ss3651365128, ss3726716638, ss3745721372, ss3783302448, ss3788980115, ss3793852676, ss3825981568, ss3836378503, ss3847997000, ss3892838146, ss5142054763 NC_000001.10:821947:T:C NC_000001.11:886567:T:C (self)
75757, 6, 24314, 51330, 3928820403, ss3023513750, ss3066410829, ss3646581320, ss3685992800, ss3770778537, ss3798744079, ss3841782513, ss4436444995 NC_000001.11:886567:T:C NC_000001.11:886567:T:C (self)
ss22883112, ss41210469, ss97913298, ss105111787, ss137752766, ss144238711, ss154523313 NT_004350.19:300579:T:C NC_000001.11:886567:T:C (self)
ss9839047 NT_077982.1:12188:T:C NC_000001.11:886567:T:C (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 rs6671445

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