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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.

rs10797588

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:232666365 (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 / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.098092 (25964/264690, TOPMED)
T=0.092910 (13017/140104, GnomAD)
T=0.06964 (1411/20260, ALFA) (+ 15 more)
T=0.25626 (4295/16760, 8.3KJPN)
T=0.1270 (636/5008, 1000G)
T=0.0690 (309/4480, Estonian)
T=0.0667 (257/3854, ALSPAC)
T=0.0593 (220/3708, TWINSUK)
T=0.2775 (813/2930, KOREAN)
T=0.2680 (491/1832, Korea1K)
T=0.063 (63/998, GoNL)
T=0.082 (49/600, NorthernSweden)
T=0.102 (55/540, SGDP_PRJ)
T=0.141 (42/298, HapMap)
T=0.046 (10/216, Qatari)
T=0.250 (54/216, Vietnamese)
T=0.09 (5/56, Siberian)
T=0.10 (4/40, 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.232666365T>A
GRCh38.p13 chr 1 NC_000001.11:g.232666365T>C
GRCh38.p13 chr 1 NC_000001.11:g.232666365T>G
GRCh37.p13 chr 1 NC_000001.10:g.232802111T>A
GRCh37.p13 chr 1 NC_000001.10:g.232802111T>C
GRCh37.p13 chr 1 NC_000001.10:g.232802111T>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 20260 T=0.06964 C=0.93036, G=0.00000
European Sub 17784 T=0.06298 C=0.93702, G=0.00000
African Sub 922 T=0.194 C=0.806, G=0.000
African Others Sub 42 T=0.19 C=0.81, G=0.00
African American Sub 880 T=0.194 C=0.806, G=0.000
Asian Sub 28 T=0.46 C=0.54, G=0.00
East Asian Sub 22 T=0.50 C=0.50, G=0.00
Other Asian Sub 6 T=0.3 C=0.7, G=0.0
Latin American 1 Sub 24 T=0.12 C=0.88, G=0.00
Latin American 2 Sub 94 T=0.07 C=0.93, G=0.00
South Asian Sub 20 T=0.15 C=0.85, G=0.00
Other Sub 1388 T=0.0620 C=0.9380, G=0.0000


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=0.098092 C=0.901908
gnomAD - Genomes Global Study-wide 140104 T=0.092910 C=0.907090
gnomAD - Genomes European Sub 75922 T=0.05834 C=0.94166
gnomAD - Genomes African Sub 41934 T=0.15286 C=0.84714
gnomAD - Genomes American Sub 13650 T=0.07963 C=0.92037
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0430 C=0.9570
gnomAD - Genomes East Asian Sub 3122 T=0.2447 C=0.7553
gnomAD - Genomes Other Sub 2152 T=0.0855 C=0.9145
8.3KJPN JAPANESE Study-wide 16760 T=0.25626 C=0.74374
1000Genomes Global Study-wide 5008 T=0.1270 C=0.8730
1000Genomes African Sub 1322 T=0.1589 C=0.8411
1000Genomes East Asian Sub 1008 T=0.2500 C=0.7500
1000Genomes Europe Sub 1006 T=0.0606 C=0.9394
1000Genomes South Asian Sub 978 T=0.067 C=0.933
1000Genomes American Sub 694 T=0.068 C=0.932
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0690 C=0.9310
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0667 C=0.9333
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0593 C=0.9407
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2775 A=0.0000, C=0.7225
Korean Genome Project KOREAN Study-wide 1832 T=0.2680 C=0.7320
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.063 C=0.937
Northern Sweden ACPOP Study-wide 600 T=0.082 C=0.918
SGDP_PRJ Global Study-wide 540 T=0.102 C=0.898
HapMap Global Study-wide 298 T=0.141 C=0.859
HapMap American Sub 112 T=0.071 C=0.929
HapMap African Sub 108 T=0.102 C=0.898
HapMap Asian Sub 78 T=0.29 C=0.71
Qatari Global Study-wide 216 T=0.046 C=0.954
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.250 C=0.750
Siberian Global Study-wide 56 T=0.09 C=0.91
The Danish reference pan genome Danish Study-wide 40 T=0.10 C=0.90
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 G
GRCh38.p13 chr 1 NC_000001.11:g.232666365= NC_000001.11:g.232666365T>A NC_000001.11:g.232666365T>C NC_000001.11:g.232666365T>G
GRCh37.p13 chr 1 NC_000001.10:g.232802111= NC_000001.10:g.232802111T>A NC_000001.10:g.232802111T>C NC_000001.10:g.232802111T>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#.

76 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16384111 Feb 27, 2004 (120)
2 SC_SNP ss18069713 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19095313 Feb 27, 2004 (120)
4 SSAHASNP ss20429380 Apr 05, 2004 (121)
5 PERLEGEN ss23896282 Sep 20, 2004 (123)
6 ABI ss44068135 Mar 14, 2006 (126)
7 BCMHGSC_JDW ss88009034 Mar 23, 2008 (129)
8 HUMANGENOME_JCVI ss98011205 Feb 04, 2009 (130)
9 BGI ss106639329 Feb 04, 2009 (130)
10 1000GENOMES ss109033074 Jan 23, 2009 (130)
11 1000GENOMES ss111936911 Jan 25, 2009 (130)
12 ILLUMINA-UK ss119246379 Feb 15, 2009 (130)
13 ENSEMBL ss138173229 Dec 01, 2009 (131)
14 ENSEMBL ss139036362 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss165402527 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss165896712 Jul 04, 2010 (132)
17 BUSHMAN ss199749241 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss205098159 Jul 04, 2010 (132)
19 1000GENOMES ss218941799 Jul 14, 2010 (132)
20 1000GENOMES ss230946830 Jul 14, 2010 (132)
21 1000GENOMES ss238552481 Jul 15, 2010 (132)
22 BL ss253890533 May 09, 2011 (134)
23 GMI ss276262032 May 04, 2012 (137)
24 GMI ss284247732 Apr 25, 2013 (138)
25 PJP ss290756341 May 09, 2011 (134)
26 ILLUMINA ss482261662 May 04, 2012 (137)
27 ILLUMINA ss483494228 May 04, 2012 (137)
28 ILLUMINA ss535702684 Sep 08, 2015 (146)
29 TISHKOFF ss555209837 Apr 25, 2013 (138)
30 SSMP ss648782934 Apr 25, 2013 (138)
31 ILLUMINA ss780298519 Sep 08, 2015 (146)
32 ILLUMINA ss782190518 Sep 08, 2015 (146)
33 ILLUMINA ss835785198 Sep 08, 2015 (146)
34 EVA-GONL ss976261749 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1068690104 Aug 21, 2014 (142)
36 1000GENOMES ss1295091294 Aug 21, 2014 (142)
37 DDI ss1426145037 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1574753254 Apr 01, 2015 (144)
39 EVA_DECODE ss1585661684 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1602375190 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1645369223 Apr 01, 2015 (144)
42 HAMMER_LAB ss1795885057 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1919482847 Feb 12, 2016 (147)
44 GENOMED ss1967000549 Jul 19, 2016 (147)
45 JJLAB ss2020266835 Sep 14, 2016 (149)
46 USC_VALOUEV ss2148302903 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2170995635 Dec 20, 2016 (150)
48 TOPMED ss2333645941 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2624645803 Nov 08, 2017 (151)
50 ILLUMINA ss2632643837 Nov 08, 2017 (151)
51 GRF ss2698303876 Nov 08, 2017 (151)
52 GNOMAD ss2767465686 Nov 08, 2017 (151)
53 SWEGEN ss2988631997 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3023894366 Nov 08, 2017 (151)
55 TOPMED ss3106254884 Nov 08, 2017 (151)
56 CSHL ss3343963647 Nov 08, 2017 (151)
57 ILLUMINA ss3626334483 Oct 11, 2018 (152)
58 ILLUMINA ss3630672944 Oct 11, 2018 (152)
59 ILLUMINA ss3641646443 Oct 11, 2018 (152)
60 URBANLAB ss3646910904 Oct 11, 2018 (152)
61 EGCUT_WGS ss3656591173 Jul 12, 2019 (153)
62 EVA_DECODE ss3688846848 Jul 12, 2019 (153)
63 ACPOP ss3727958484 Jul 12, 2019 (153)
64 EVA ss3747475408 Jul 12, 2019 (153)
65 PACBIO ss3783717225 Jul 12, 2019 (153)
66 PACBIO ss3789324557 Jul 12, 2019 (153)
67 PACBIO ss3794196977 Jul 12, 2019 (153)
68 KHV_HUMAN_GENOMES ss3800477176 Jul 12, 2019 (153)
69 EVA ss3826701483 Apr 25, 2020 (154)
70 EVA ss3836752605 Apr 25, 2020 (154)
71 EVA ss3842165117 Apr 25, 2020 (154)
72 SGDP_PRJ ss3851127668 Apr 25, 2020 (154)
73 KRGDB ss3896476887 Apr 25, 2020 (154)
74 KOGIC ss3946722055 Apr 25, 2020 (154)
75 TOPMED ss4487436983 Apr 25, 2021 (155)
76 TOMMO_GENOMICS ss5148937979 Apr 25, 2021 (155)
77 1000Genomes NC_000001.10 - 232802111 Oct 11, 2018 (152)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 232802111 Oct 11, 2018 (152)
79 Genetic variation in the Estonian population NC_000001.10 - 232802111 Oct 11, 2018 (152)
80 The Danish reference pan genome NC_000001.10 - 232802111 Apr 25, 2020 (154)
81 gnomAD - Genomes NC_000001.11 - 232666365 Apr 25, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000001.10 - 232802111 Apr 25, 2020 (154)
83 HapMap NC_000001.11 - 232666365 Apr 25, 2020 (154)
84 KOREAN population from KRGDB NC_000001.10 - 232802111 Apr 25, 2020 (154)
85 Korean Genome Project NC_000001.11 - 232666365 Apr 25, 2020 (154)
86 Northern Sweden NC_000001.10 - 232802111 Jul 12, 2019 (153)
87 Qatari NC_000001.10 - 232802111 Apr 25, 2020 (154)
88 SGDP_PRJ NC_000001.10 - 232802111 Apr 25, 2020 (154)
89 Siberian NC_000001.10 - 232802111 Apr 25, 2020 (154)
90 8.3KJPN NC_000001.10 - 232802111 Apr 25, 2021 (155)
91 TopMed NC_000001.11 - 232666365 Apr 25, 2021 (155)
92 UK 10K study - Twins NC_000001.10 - 232802111 Oct 11, 2018 (152)
93 A Vietnamese Genetic Variation Database NC_000001.10 - 232802111 Jul 12, 2019 (153)
94 ALFA NC_000001.11 - 232666365 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
3654281, ss3896476887 NC_000001.10:232802110:T:A NC_000001.11:232666364:T:A (self)
ss88009034, ss109033074, ss111936911, ss119246379, ss165402527, ss165896712, ss199749241, ss205098159, ss253890533, ss276262032, ss284247732, ss290756341, ss482261662, ss1585661684 NC_000001.9:230868733:T:C NC_000001.11:232666364:T:C (self)
5961781, 3297456, 2329421, 1931361, 1441730, 3654281, 1243349, 1524777, 3144648, 819257, 6907286, 3297456, 717400, ss218941799, ss230946830, ss238552481, ss483494228, ss535702684, ss555209837, ss648782934, ss780298519, ss782190518, ss835785198, ss976261749, ss1068690104, ss1295091294, ss1426145037, ss1574753254, ss1602375190, ss1645369223, ss1795885057, ss1919482847, ss1967000549, ss2020266835, ss2148302903, ss2333645941, ss2624645803, ss2632643837, ss2698303876, ss2767465686, ss2988631997, ss3343963647, ss3626334483, ss3630672944, ss3641646443, ss3656591173, ss3727958484, ss3747475408, ss3783717225, ss3789324557, ss3794196977, ss3826701483, ss3836752605, ss3851127668, ss3896476887, ss5148937979 NC_000001.10:232802110:T:C NC_000001.11:232666364:T:C (self)
42754584, 291366, 3100056, 32081235, 51043318, 5551023717, ss2170995635, ss3023894366, ss3106254884, ss3646910904, ss3688846848, ss3800477176, ss3842165117, ss3946722055, ss4487436983 NC_000001.11:232666364:T:C NC_000001.11:232666364:T:C (self)
ss16384111, ss18069713, ss19095313, ss20429380 NT_004433.16:477459:T:C NC_000001.11:232666364:T:C (self)
ss23896282, ss44068135, ss98011205, ss106639329, ss138173229, ss139036362 NT_167186.1:26319889:T:C NC_000001.11:232666364:T:C (self)
5551023717 NC_000001.11:232666364:T:G NC_000001.11:232666364: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 rs10797588

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