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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.

rs2448335

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60765366 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.393298 (104102/264690, TOPMED)
A=0.380502 (53039/139392, GnomAD)
A=0.36861 (6963/18890, ALFA) (+ 11 more)
A=0.49093 (8228/16760, 8.3KJPN)
A=0.4195 (2101/5008, 1000G)
A=0.3591 (1384/3854, ALSPAC)
A=0.3803 (1410/3708, TWINSUK)
G=0.4061 (1190/2930, KOREAN)
A=0.389 (388/998, GoNL)
A=0.405 (243/600, NorthernSweden)
G=0.349 (130/372, SGDP_PRJ)
A=0.417 (90/216, Qatari)
G=0.47 (19/40, GENOME_DK)
G=0.36 (10/28, 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 10 NC_000010.11:g.60765366G>A
GRCh38.p13 chr 10 NC_000010.11:g.60765366G>T
GRCh37.p13 chr 10 NC_000010.10:g.62525124G>A
GRCh37.p13 chr 10 NC_000010.10:g.62525124G>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 18890 G=0.63139 A=0.36861
European Sub 14286 G=0.64371 A=0.35629
African Sub 2946 G=0.6124 A=0.3876
African Others Sub 114 G=0.579 A=0.421
African American Sub 2832 G=0.6137 A=0.3863
Asian Sub 112 G=0.366 A=0.634
East Asian Sub 86 G=0.38 A=0.62
Other Asian Sub 26 G=0.31 A=0.69
Latin American 1 Sub 146 G=0.658 A=0.342
Latin American 2 Sub 610 G=0.518 A=0.482
South Asian Sub 98 G=0.68 A=0.32
Other Sub 692 G=0.588 A=0.412


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 G=0.606702 A=0.393298
gnomAD - Genomes Global Study-wide 139392 G=0.619498 A=0.380502
gnomAD - Genomes European Sub 75666 G=0.63831 A=0.36169
gnomAD - Genomes African Sub 41600 G=0.60659 A=0.39341
gnomAD - Genomes American Sub 13570 G=0.58755 A=0.41245
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=0.7358 A=0.2642
gnomAD - Genomes East Asian Sub 3106 G=0.3554 A=0.6446
gnomAD - Genomes Other Sub 2134 G=0.6111 A=0.3889
8.3KJPN JAPANESE Study-wide 16760 G=0.50907 A=0.49093
1000Genomes Global Study-wide 5008 G=0.5805 A=0.4195
1000Genomes African Sub 1322 G=0.6142 A=0.3858
1000Genomes East Asian Sub 1008 G=0.3780 A=0.6220
1000Genomes Europe Sub 1006 G=0.6511 A=0.3489
1000Genomes South Asian Sub 978 G=0.702 A=0.298
1000Genomes American Sub 694 G=0.536 A=0.464
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6409 A=0.3591
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6197 A=0.3803
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4061 A=0.5939, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.611 A=0.389
Northern Sweden ACPOP Study-wide 600 G=0.595 A=0.405
SGDP_PRJ Global Study-wide 372 G=0.349 A=0.651
Qatari Global Study-wide 216 G=0.583 A=0.417
The Danish reference pan genome Danish Study-wide 40 G=0.47 A=0.53
Siberian Global Study-wide 28 G=0.36 A=0.64
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 G= A T
GRCh38.p13 chr 10 NC_000010.11:g.60765366= NC_000010.11:g.60765366G>A NC_000010.11:g.60765366G>T
GRCh37.p13 chr 10 NC_000010.10:g.62525124= NC_000010.10:g.62525124G>A NC_000010.10:g.62525124G>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#.

59 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3432064 Sep 28, 2001 (100)
2 SC_SNP ss12953986 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss16468087 Feb 27, 2004 (120)
4 SSAHASNP ss20670373 Apr 05, 2004 (121)
5 HGSV ss85771039 Dec 15, 2007 (130)
6 BGI ss102883645 Dec 01, 2009 (131)
7 1000GENOMES ss109490944 Jan 24, 2009 (130)
8 1000GENOMES ss113347787 Jan 25, 2009 (130)
9 ENSEMBL ss137964397 Dec 01, 2009 (131)
10 GMI ss155112363 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168447760 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss170176028 Jul 04, 2010 (132)
13 BUSHMAN ss201594584 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss207149919 Jul 04, 2010 (132)
15 1000GENOMES ss224758354 Jul 14, 2010 (132)
16 1000GENOMES ss235199345 Jul 15, 2010 (132)
17 1000GENOMES ss241900579 Jul 15, 2010 (132)
18 BL ss254360626 May 09, 2011 (134)
19 GMI ss280640469 May 04, 2012 (137)
20 PJP ss290850700 May 09, 2011 (134)
21 TISHKOFF ss561993039 Apr 25, 2013 (138)
22 SSMP ss656817893 Apr 25, 2013 (138)
23 EVA-GONL ss987549814 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1077032305 Aug 21, 2014 (142)
25 1000GENOMES ss1337667725 Aug 21, 2014 (142)
26 DDI ss1426339593 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1575154277 Apr 01, 2015 (144)
28 EVA_DECODE ss1597216278 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1624686848 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1667680881 Apr 01, 2015 (144)
31 HAMMER_LAB ss1806415993 Sep 08, 2015 (146)
32 WEILL_CORNELL_DGM ss1930913761 Feb 12, 2016 (147)
33 GENOMED ss1967142989 Jul 19, 2016 (147)
34 JJLAB ss2026180132 Sep 14, 2016 (149)
35 USC_VALOUEV ss2154453278 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2175217351 Dec 20, 2016 (150)
37 TOPMED ss2338249728 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2627560438 Nov 08, 2017 (151)
39 GRF ss2698697398 Nov 08, 2017 (151)
40 GNOMAD ss2889430001 Nov 08, 2017 (151)
41 SWEGEN ss3006572884 Nov 08, 2017 (151)
42 BIOINF_KMB_FNS_UNIBA ss3026881235 Nov 08, 2017 (151)
43 TOPMED ss3121335694 Nov 08, 2017 (151)
44 CSHL ss3349150329 Nov 08, 2017 (151)
45 URBANLAB ss3649385528 Oct 12, 2018 (152)
46 EVA_DECODE ss3689992649 Jul 13, 2019 (153)
47 ACPOP ss3737373062 Jul 13, 2019 (153)
48 EVA ss3748171833 Jul 13, 2019 (153)
49 PACBIO ss3786689008 Jul 13, 2019 (153)
50 PACBIO ss3791867507 Jul 13, 2019 (153)
51 PACBIO ss3796749525 Jul 13, 2019 (153)
52 KHV_HUMAN_GENOMES ss3813547506 Jul 13, 2019 (153)
53 EVA ss3832155589 Apr 26, 2020 (154)
54 EVA ss3839617296 Apr 26, 2020 (154)
55 EVA ss3845089534 Apr 26, 2020 (154)
56 SGDP_PRJ ss3874329631 Apr 26, 2020 (154)
57 KRGDB ss3922399654 Apr 26, 2020 (154)
58 TOPMED ss4854404263 Apr 27, 2021 (155)
59 TOMMO_GENOMICS ss5197891250 Apr 27, 2021 (155)
60 1000Genomes NC_000010.10 - 62525124 Oct 12, 2018 (152)
61 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62525124 Oct 12, 2018 (152)
62 The Danish reference pan genome NC_000010.10 - 62525124 Apr 26, 2020 (154)
63 gnomAD - Genomes NC_000010.11 - 60765366 Apr 27, 2021 (155)
64 Genome of the Netherlands Release 5 NC_000010.10 - 62525124 Apr 26, 2020 (154)
65 KOREAN population from KRGDB NC_000010.10 - 62525124 Apr 26, 2020 (154)
66 Northern Sweden NC_000010.10 - 62525124 Jul 13, 2019 (153)
67 Qatari NC_000010.10 - 62525124 Apr 26, 2020 (154)
68 SGDP_PRJ NC_000010.10 - 62525124 Apr 26, 2020 (154)
69 Siberian NC_000010.10 - 62525124 Apr 26, 2020 (154)
70 8.3KJPN NC_000010.10 - 62525124 Apr 27, 2021 (155)
71 TopMed NC_000010.11 - 60765366 Apr 27, 2021 (155)
72 UK 10K study - Twins NC_000010.10 - 62525124 Oct 12, 2018 (152)
73 ALFA NC_000010.11 - 60765366 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)
rs59916805 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85771039 NC_000010.8:62195129:G:A NC_000010.11:60765365:G:A (self)
ss109490944, ss113347787, ss168447760, ss170176028, ss201594584, ss207149919, ss254360626, ss280640469, ss290850700, ss1597216278 NC_000010.9:62195129:G:A NC_000010.11:60765365:G:A (self)
50064075, 27786114, 2181645, 12392224, 29577048, 10657927, 12955691, 26346611, 6969632, 55860557, 27786114, ss224758354, ss235199345, ss241900579, ss561993039, ss656817893, ss987549814, ss1077032305, ss1337667725, ss1426339593, ss1575154277, ss1624686848, ss1667680881, ss1806415993, ss1930913761, ss1967142989, ss2026180132, ss2154453278, ss2338249728, ss2627560438, ss2698697398, ss2889430001, ss3006572884, ss3349150329, ss3737373062, ss3748171833, ss3786689008, ss3791867507, ss3796749525, ss3832155589, ss3839617296, ss3874329631, ss3922399654, ss5197891250 NC_000010.10:62525123:G:A NC_000010.11:60765365:G:A (self)
353870703, 43951001, 69949918, 2703776438, ss2175217351, ss3026881235, ss3121335694, ss3649385528, ss3689992649, ss3813547506, ss3845089534, ss4854404263 NC_000010.11:60765365:G:A NC_000010.11:60765365:G:A (self)
ss12953986 NT_008583.15:11076271:G:A NC_000010.11:60765365:G:A (self)
ss16468087, ss20670373 NT_008583.16:11076278:G:A NC_000010.11:60765365:G:A (self)
ss3432064, ss102883645, ss137964397, ss155112363 NT_030059.13:13329587:G:A NC_000010.11:60765365:G:A (self)
29577048, ss3922399654 NC_000010.10:62525123:G:T NC_000010.11:60765365:G: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 rs2448335

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