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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.

rs6603895

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:18424989 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.451914 (119617/264690, TOPMED)
T=0.468895 (65484/139656, GnomAD)
T=0.48475 (9157/18890, ALFA) (+ 13 more)
T=0.38771 (6498/16760, 8.3KJPN)
T=0.4429 (2218/5008, 1000G)
A=0.4545 (2036/4480, Estonian)
T=0.4668 (1799/3854, ALSPAC)
T=0.4655 (1726/3708, TWINSUK)
T=0.4447 (1303/2930, KOREAN)
T=0.4416 (809/1832, Korea1K)
A=0.172 (172/998, GoNL)
A=0.465 (279/600, NorthernSweden)
T=0.264 (117/444, SGDP_PRJ)
T=0.356 (77/216, Qatari)
T=0.33 (16/48, Siberian)
A=0.38 (15/40, 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.18424989T>A
GRCh37.p13 chr 1 NC_000001.10:g.18751483T>A
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 18890 T=0.48475 A=0.51525
European Sub 14286 T=0.50203 A=0.49797
African Sub 2946 T=0.4358 A=0.5642
African Others Sub 114 T=0.386 A=0.614
African American Sub 2832 T=0.4379 A=0.5621
Asian Sub 112 T=0.420 A=0.580
East Asian Sub 86 T=0.42 A=0.58
Other Asian Sub 26 T=0.42 A=0.58
Latin American 1 Sub 146 T=0.459 A=0.541
Latin American 2 Sub 610 T=0.418 A=0.582
South Asian Sub 98 T=0.33 A=0.67
Other Sub 692 T=0.434 A=0.566


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=0.451914 A=0.548086
gnomAD - Genomes Global Study-wide 139656 T=0.468895 A=0.531105
gnomAD - Genomes European Sub 75674 T=0.49918 A=0.50082
gnomAD - Genomes African Sub 41814 T=0.42947 A=0.57053
gnomAD - Genomes American Sub 13592 T=0.42812 A=0.57188
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.4967 A=0.5033
gnomAD - Genomes East Asian Sub 3104 T=0.4014 A=0.5986
gnomAD - Genomes Other Sub 2148 T=0.4818 A=0.5182
8.3KJPN JAPANESE Study-wide 16760 T=0.38771 A=0.61229
1000Genomes Global Study-wide 5008 T=0.4429 A=0.5571
1000Genomes African Sub 1322 T=0.4539 A=0.5461
1000Genomes East Asian Sub 1008 T=0.4325 A=0.5675
1000Genomes Europe Sub 1006 T=0.4980 A=0.5020
1000Genomes South Asian Sub 978 T=0.373 A=0.627
1000Genomes American Sub 694 T=0.455 A=0.545
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5455 A=0.4545
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4668 A=0.5332
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4655 A=0.5345
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4447 A=0.5553
Korean Genome Project KOREAN Study-wide 1832 T=0.4416 A=0.5584
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.828 A=0.172
Northern Sweden ACPOP Study-wide 600 T=0.535 A=0.465
SGDP_PRJ Global Study-wide 444 T=0.264 A=0.736
Qatari Global Study-wide 216 T=0.356 A=0.644
Siberian Global Study-wide 48 T=0.33 A=0.67
The Danish reference pan genome Danish Study-wide 40 T=0.62 A=0.38
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
GRCh38.p13 chr 1 NC_000001.11:g.18424989= NC_000001.11:g.18424989T>A
GRCh37.p13 chr 1 NC_000001.10:g.18751483= NC_000001.10:g.18751483T>A
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#.

58 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9808409 Jul 11, 2003 (116)
2 WI_SSAHASNP ss11341499 Jul 11, 2003 (116)
3 SC_SNP ss15432558 Feb 28, 2004 (123)
4 SC_SNP ss18175337 Feb 27, 2004 (123)
5 CSHL-HAPMAP ss19125228 Feb 27, 2004 (123)
6 ABI ss41059673 Mar 15, 2006 (126)
7 HGSV ss78819371 Dec 07, 2007 (129)
8 BCMHGSC_JDW ss87269647 Mar 23, 2008 (129)
9 1000GENOMES ss108031404 Jan 22, 2009 (130)
10 ILLUMINA-UK ss118536527 Feb 14, 2009 (130)
11 ENSEMBL ss137825544 Dec 01, 2009 (131)
12 ENSEMBL ss161198803 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss163911737 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss166178836 Jul 04, 2010 (132)
15 1000GENOMES ss218264165 Jul 14, 2010 (132)
16 1000GENOMES ss230447443 Jul 14, 2010 (132)
17 1000GENOMES ss238158533 Jul 15, 2010 (132)
18 BL ss252956309 May 09, 2011 (134)
19 GMI ss275738825 May 04, 2012 (137)
20 PJP ss290704502 May 09, 2011 (134)
21 TISHKOFF ss553850154 Apr 25, 2013 (138)
22 SSMP ss647615248 Apr 25, 2013 (138)
23 EVA-GONL ss974908887 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1067708048 Aug 21, 2014 (142)
25 1000GENOMES ss1289892155 Aug 21, 2014 (142)
26 DDI ss1425732924 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1573918397 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1599650562 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1642644595 Apr 01, 2015 (144)
30 HAMMER_LAB ss1794001292 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1918119484 Feb 12, 2016 (147)
32 JJLAB ss2019571226 Sep 14, 2016 (149)
33 USC_VALOUEV ss2147573741 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2160432573 Dec 20, 2016 (150)
35 TOPMED ss2322613123 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2624301891 Nov 08, 2017 (151)
37 GRF ss2697478057 Nov 08, 2017 (151)
38 GNOMAD ss2752261421 Nov 08, 2017 (151)
39 SWEGEN ss2986406405 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3023550322 Nov 08, 2017 (151)
41 TOPMED ss3070002693 Nov 08, 2017 (151)
42 CSHL ss3343349111 Nov 08, 2017 (151)
43 EGCUT_WGS ss3654475891 Jul 12, 2019 (153)
44 EVA_DECODE ss3686271252 Jul 12, 2019 (153)
45 ACPOP ss3726837369 Jul 12, 2019 (153)
46 EVA ss3745894817 Jul 12, 2019 (153)
47 PACBIO ss3783342736 Jul 12, 2019 (153)
48 PACBIO ss3789013940 Jul 12, 2019 (153)
49 PACBIO ss3793886418 Jul 12, 2019 (153)
50 KHV_HUMAN_GENOMES ss3798916061 Jul 12, 2019 (153)
51 EVA ss3826051067 Apr 25, 2020 (154)
52 EVA ss3836413743 Apr 25, 2020 (154)
53 EVA ss3841818079 Apr 25, 2020 (154)
54 SGDP_PRJ ss3848330210 Apr 25, 2020 (154)
55 KRGDB ss3893234992 Apr 25, 2020 (154)
56 KOGIC ss3943953851 Apr 25, 2020 (154)
57 TOPMED ss4440916706 Apr 27, 2021 (155)
58 TOMMO_GENOMICS ss5142759872 Apr 27, 2021 (155)
59 1000Genomes NC_000001.10 - 18751483 Oct 11, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 18751483 Oct 11, 2018 (152)
61 Genetic variation in the Estonian population NC_000001.10 - 18751483 Oct 11, 2018 (152)
62 The Danish reference pan genome NC_000001.10 - 18751483 Apr 25, 2020 (154)
63 gnomAD - Genomes NC_000001.11 - 18424989 Apr 27, 2021 (155)
64 Genome of the Netherlands Release 5 NC_000001.10 - 18751483 Apr 25, 2020 (154)
65 KOREAN population from KRGDB NC_000001.10 - 18751483 Apr 25, 2020 (154)
66 Korean Genome Project NC_000001.11 - 18424989 Apr 25, 2020 (154)
67 Northern Sweden NC_000001.10 - 18751483 Jul 12, 2019 (153)
68 Qatari NC_000001.10 - 18751483 Apr 25, 2020 (154)
69 SGDP_PRJ NC_000001.10 - 18751483 Apr 25, 2020 (154)
70 Siberian NC_000001.10 - 18751483 Apr 25, 2020 (154)
71 8.3KJPN NC_000001.10 - 18751483 Apr 27, 2021 (155)
72 TopMed NC_000001.11 - 18424989 Apr 27, 2021 (155)
73 UK 10K study - Twins NC_000001.10 - 18751483 Oct 11, 2018 (152)
74 ALFA NC_000001.11 - 18424989 Apr 27, 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)
rs11261004 Sep 24, 2004 (123)
rs11488495 Sep 24, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78819371 NC_000001.8:18496788:T:A NC_000001.11:18424988:T:A (self)
ss87269647, ss108031404, ss118536527, ss163911737, ss166178836, ss252956309, ss275738825, ss290704502 NC_000001.9:18624069:T:A NC_000001.11:18424988:T:A (self)
575281, 299546, 214139, 1410849, 130579, 412386, 122234, 161414, 347190, 90095, 729179, 299546, ss218264165, ss230447443, ss238158533, ss553850154, ss647615248, ss974908887, ss1067708048, ss1289892155, ss1425732924, ss1573918397, ss1599650562, ss1642644595, ss1794001292, ss1918119484, ss2019571226, ss2147573741, ss2322613123, ss2624301891, ss2697478057, ss2752261421, ss2986406405, ss3343349111, ss3654475891, ss3726837369, ss3745894817, ss3783342736, ss3789013940, ss3793886418, ss3826051067, ss3836413743, ss3848330210, ss3893234992, ss5142759872 NC_000001.10:18751482:T:A NC_000001.11:18424988:T:A (self)
4014357, 331852, 2839886, 4523041, 13129803485, ss2160432573, ss3023550322, ss3070002693, ss3686271252, ss3798916061, ss3841818079, ss3943953851, ss4440916706 NC_000001.11:18424988:T:A NC_000001.11:18424988:T:A (self)
ss41059673, ss137825544, ss161198803 NT_004610.19:5431570:T:A NC_000001.11:18424988:T:A (self)
ss9808409, ss11341499, ss15432558, ss18175337, ss19125228 NT_077921.1:368945:T:A NC_000001.11:18424988:T:A (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 rs6603895

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