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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.

rs10899952

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:43931573 (GRCh38.p14) 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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.064181 (16988/264690, TOPMED)
T=0.043660 (8687/198968, ALFA)
T=0.059720 (8374/140220, GnomAD) (+ 20 more)
T=0.06611 (1868/28258, 14KJPN)
T=0.06516 (1092/16760, 8.3KJPN)
T=0.0771 (494/6404, 1000G_30x)
T=0.0757 (379/5008, 1000G)
T=0.0308 (138/4480, Estonian)
T=0.0355 (137/3854, ALSPAC)
T=0.0367 (136/3708, TWINSUK)
T=0.0815 (238/2922, KOREAN)
T=0.0715 (149/2084, HGDP_Stanford)
T=0.0830 (157/1892, HapMap)
T=0.0977 (179/1832, Korea1K)
T=0.043 (43/998, GoNL)
T=0.052 (31/600, NorthernSweden)
T=0.069 (15/216, Qatari)
T=0.061 (13/214, Vietnamese)
G=0.48 (45/94, SGDP_PRJ)
T=0.03 (2/80, Ancient Sardinia)
T=0.03 (1/40, GENOME_DK)
G=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC00841 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 198968 G=0.956340 T=0.043660
European Sub 171732 G=0.961719 T=0.038281
African Sub 7094 G=0.9091 T=0.0909
African Others Sub 264 G=0.898 T=0.102
African American Sub 6830 G=0.9095 T=0.0905
Asian Sub 702 G=0.930 T=0.070
East Asian Sub 556 G=0.923 T=0.077
Other Asian Sub 146 G=0.959 T=0.041
Latin American 1 Sub 842 G=0.948 T=0.052
Latin American 2 Sub 6894 G=0.8940 T=0.1060
South Asian Sub 5042 G=0.9419 T=0.0581
Other Sub 6662 G=0.9473 T=0.0527


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=0.935819 T=0.064181
Allele Frequency Aggregator Total Global 198968 G=0.956340 T=0.043660
Allele Frequency Aggregator European Sub 171732 G=0.961719 T=0.038281
Allele Frequency Aggregator African Sub 7094 G=0.9091 T=0.0909
Allele Frequency Aggregator Latin American 2 Sub 6894 G=0.8940 T=0.1060
Allele Frequency Aggregator Other Sub 6662 G=0.9473 T=0.0527
Allele Frequency Aggregator South Asian Sub 5042 G=0.9419 T=0.0581
Allele Frequency Aggregator Latin American 1 Sub 842 G=0.948 T=0.052
Allele Frequency Aggregator Asian Sub 702 G=0.930 T=0.070
gnomAD - Genomes Global Study-wide 140220 G=0.940280 T=0.059720
gnomAD - Genomes European Sub 75946 G=0.95992 T=0.04008
gnomAD - Genomes African Sub 42010 G=0.90524 T=0.09476
gnomAD - Genomes American Sub 13656 G=0.93161 T=0.06839
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9675 T=0.0325
gnomAD - Genomes East Asian Sub 3132 G=0.9400 T=0.0600
gnomAD - Genomes Other Sub 2154 G=0.9448 T=0.0552
14KJPN JAPANESE Study-wide 28258 G=0.93389 T=0.06611
8.3KJPN JAPANESE Study-wide 16760 G=0.93484 T=0.06516
1000Genomes_30x Global Study-wide 6404 G=0.9229 T=0.0771
1000Genomes_30x African Sub 1786 G=0.8824 T=0.1176
1000Genomes_30x Europe Sub 1266 G=0.9652 T=0.0348
1000Genomes_30x South Asian Sub 1202 G=0.9343 T=0.0657
1000Genomes_30x East Asian Sub 1170 G=0.9376 T=0.0624
1000Genomes_30x American Sub 980 G=0.910 T=0.090
1000Genomes Global Study-wide 5008 G=0.9243 T=0.0757
1000Genomes African Sub 1322 G=0.8858 T=0.1142
1000Genomes East Asian Sub 1008 G=0.9345 T=0.0655
1000Genomes Europe Sub 1006 G=0.9652 T=0.0348
1000Genomes South Asian Sub 978 G=0.937 T=0.063
1000Genomes American Sub 694 G=0.906 T=0.094
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9692 T=0.0308
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9645 T=0.0355
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9633 T=0.0367
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9185 T=0.0815
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.9285 T=0.0715
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.898 T=0.102
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.932 T=0.068
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.969 T=0.031
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.956 T=0.044
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.893 T=0.107
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.921 T=0.079
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.93 T=0.07
HapMap Global Study-wide 1892 G=0.9170 T=0.0830
HapMap American Sub 770 G=0.905 T=0.095
HapMap African Sub 692 G=0.910 T=0.090
HapMap Asian Sub 254 G=0.925 T=0.075
HapMap Europe Sub 176 G=0.983 T=0.017
Korean Genome Project KOREAN Study-wide 1832 G=0.9023 T=0.0977
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.957 T=0.043
Northern Sweden ACPOP Study-wide 600 G=0.948 T=0.052
Qatari Global Study-wide 216 G=0.931 T=0.069
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.939 T=0.061
SGDP_PRJ Global Study-wide 94 G=0.48 T=0.52
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 G=0.97 T=0.03
The Danish reference pan genome Danish Study-wide 40 G=0.97 T=0.03
Siberian Global Study-wide 2 G=0.5 T=0.5
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.p14 chr 10 NC_000010.11:g.43931573G>T
GRCh37.p13 chr 10 NC_000010.10:g.44427021G>T
Gene: LINC00841, long intergenic non-protein coding RNA 841 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC00841 transcript variant 1 NR_033846.2:n. N/A Intron Variant
LINC00841 transcript variant 2 NR_136147.1:n. N/A Intron Variant
LINC00841 transcript variant 3 NR_136148.1:n. N/A Genic Downstream Transcript Variant
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
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= T
GRCh38.p14 chr 10 NC_000010.11:g.43931573= NC_000010.11:g.43931573G>T
GRCh37.p13 chr 10 NC_000010.10:g.44427021= NC_000010.10:g.44427021G>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#.

101 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15787323 Feb 27, 2004 (120)
2 SC_SNP ss18629824 Feb 27, 2004 (120)
3 SC_SNP ss18875315 Feb 27, 2004 (120)
4 PERLEGEN ss24085482 Sep 20, 2004 (123)
5 ILLUMINA ss66908789 Dec 01, 2006 (127)
6 ILLUMINA ss67037615 Dec 01, 2006 (127)
7 ILLUMINA ss68093707 Dec 12, 2006 (127)
8 ILLUMINA ss70506350 May 26, 2008 (130)
9 ILLUMINA ss71032992 May 17, 2007 (127)
10 ILLUMINA ss75718468 Dec 05, 2007 (129)
11 KRIBB_YJKIM ss85027175 Dec 15, 2007 (130)
12 ILLUMINA ss152867924 Dec 01, 2009 (131)
13 ILLUMINA ss159151515 Dec 01, 2009 (131)
14 ILLUMINA ss159935934 Dec 01, 2009 (131)
15 ILLUMINA ss170724350 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss174510571 Jul 04, 2010 (132)
17 BUSHMAN ss201444893 Jul 04, 2010 (132)
18 1000GENOMES ss210955317 Jul 14, 2010 (132)
19 1000GENOMES ss224692097 Jul 14, 2010 (132)
20 1000GENOMES ss235151069 Jul 15, 2010 (132)
21 1000GENOMES ss241862335 Jul 15, 2010 (132)
22 GMI ss280591482 May 04, 2012 (137)
23 ILLUMINA ss410780452 Sep 17, 2011 (135)
24 ILLUMINA ss479396304 May 04, 2012 (137)
25 ILLUMINA ss479399549 May 04, 2012 (137)
26 ILLUMINA ss479809791 Sep 08, 2015 (146)
27 ILLUMINA ss484498148 May 04, 2012 (137)
28 ILLUMINA ss536650603 Sep 08, 2015 (146)
29 TISHKOFF ss561918570 Apr 25, 2013 (138)
30 SSMP ss656634801 Apr 25, 2013 (138)
31 ILLUMINA ss778745274 Sep 08, 2015 (146)
32 ILLUMINA ss782695622 Sep 08, 2015 (146)
33 ILLUMINA ss783663781 Sep 08, 2015 (146)
34 ILLUMINA ss831946663 Sep 08, 2015 (146)
35 ILLUMINA ss832664130 Jul 13, 2019 (153)
36 ILLUMINA ss834204896 Sep 08, 2015 (146)
37 EVA-GONL ss987429335 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1076941733 Aug 21, 2014 (142)
39 1000GENOMES ss1337212181 Aug 21, 2014 (142)
40 EVA_GENOME_DK ss1575075248 Apr 01, 2015 (144)
41 EVA_DECODE ss1597094700 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1624459906 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1667453939 Apr 01, 2015 (144)
44 EVA_SVP ss1713175023 Apr 01, 2015 (144)
45 ILLUMINA ss1751968711 Sep 08, 2015 (146)
46 HAMMER_LAB ss1806361874 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1930779382 Feb 12, 2016 (147)
48 GENOMED ss1967112786 Jul 19, 2016 (147)
49 JJLAB ss2026113847 Sep 14, 2016 (149)
50 USC_VALOUEV ss2154386806 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2174363716 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2627526079 Nov 08, 2017 (151)
53 ILLUMINA ss2632704295 Nov 08, 2017 (151)
54 GRF ss2698622929 Nov 08, 2017 (151)
55 GNOMAD ss2888106588 Nov 08, 2017 (151)
56 SWEGEN ss3006370619 Nov 08, 2017 (151)
57 CSHL ss3349089174 Nov 08, 2017 (151)
58 ILLUMINA ss3626435141 Oct 12, 2018 (152)
59 ILLUMINA ss3630730545 Oct 12, 2018 (152)
60 ILLUMINA ss3632947253 Oct 12, 2018 (152)
61 ILLUMINA ss3633644285 Oct 12, 2018 (152)
62 ILLUMINA ss3634400831 Oct 12, 2018 (152)
63 ILLUMINA ss3635336875 Oct 12, 2018 (152)
64 ILLUMINA ss3636082601 Oct 12, 2018 (152)
65 ILLUMINA ss3637087522 Oct 12, 2018 (152)
66 ILLUMINA ss3637846851 Oct 12, 2018 (152)
67 ILLUMINA ss3638939263 Oct 12, 2018 (152)
68 ILLUMINA ss3639781099 Oct 12, 2018 (152)
69 ILLUMINA ss3640108173 Oct 12, 2018 (152)
70 ILLUMINA ss3642850520 Oct 12, 2018 (152)
71 ILLUMINA ss3643833862 Oct 12, 2018 (152)
72 EGCUT_WGS ss3673810056 Jul 13, 2019 (153)
73 EVA_DECODE ss3689768591 Jul 13, 2019 (153)
74 ACPOP ss3737270207 Jul 13, 2019 (153)
75 ILLUMINA ss3744701735 Jul 13, 2019 (153)
76 EVA ss3748033887 Jul 13, 2019 (153)
77 ILLUMINA ss3772202326 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3813405822 Jul 13, 2019 (153)
79 EVA ss3832092183 Apr 26, 2020 (154)
80 HGDP ss3847383793 Apr 26, 2020 (154)
81 SGDP_PRJ ss3874052413 Apr 26, 2020 (154)
82 KRGDB ss3922117312 Apr 26, 2020 (154)
83 KOGIC ss3967765394 Apr 26, 2020 (154)
84 EVA ss3985471852 Apr 26, 2021 (155)
85 EVA ss4017482608 Apr 26, 2021 (155)
86 TOPMED ss4850436252 Apr 26, 2021 (155)
87 TOMMO_GENOMICS ss5197354835 Apr 26, 2021 (155)
88 1000G_HIGH_COVERAGE ss5283818733 Oct 16, 2022 (156)
89 EVA ss5315468826 Oct 16, 2022 (156)
90 EVA ss5393078706 Oct 16, 2022 (156)
91 HUGCELL_USP ss5479457798 Oct 16, 2022 (156)
92 EVA ss5509991183 Oct 16, 2022 (156)
93 1000G_HIGH_COVERAGE ss5577642005 Oct 16, 2022 (156)
94 SANFORD_IMAGENETICS ss5649160483 Oct 16, 2022 (156)
95 TOMMO_GENOMICS ss5743096468 Oct 16, 2022 (156)
96 EVA ss5799810724 Oct 16, 2022 (156)
97 YY_MCH ss5811471261 Oct 16, 2022 (156)
98 EVA ss5824312361 Oct 16, 2022 (156)
99 EVA ss5849540423 Oct 16, 2022 (156)
100 EVA ss5878686840 Oct 16, 2022 (156)
101 EVA ss5940439435 Oct 16, 2022 (156)
102 1000Genomes NC_000010.10 - 44427021 Oct 12, 2018 (152)
103 1000Genomes_30x NC_000010.11 - 43931573 Oct 16, 2022 (156)
104 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 44427021 Oct 12, 2018 (152)
105 Genetic variation in the Estonian population NC_000010.10 - 44427021 Oct 12, 2018 (152)
106 The Danish reference pan genome NC_000010.10 - 44427021 Apr 26, 2020 (154)
107 gnomAD - Genomes NC_000010.11 - 43931573 Apr 26, 2021 (155)
108 Genome of the Netherlands Release 5 NC_000010.10 - 44427021 Apr 26, 2020 (154)
109 HGDP-CEPH-db Supplement 1 NC_000010.9 - 43747027 Apr 26, 2020 (154)
110 HapMap NC_000010.11 - 43931573 Apr 26, 2020 (154)
111 KOREAN population from KRGDB NC_000010.10 - 44427021 Apr 26, 2020 (154)
112 Korean Genome Project NC_000010.11 - 43931573 Apr 26, 2020 (154)
113 Northern Sweden NC_000010.10 - 44427021 Jul 13, 2019 (153)
114 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 44427021 Apr 26, 2021 (155)
115 Qatari NC_000010.10 - 44427021 Apr 26, 2020 (154)
116 SGDP_PRJ NC_000010.10 - 44427021 Apr 26, 2020 (154)
117 Siberian NC_000010.10 - 44427021 Apr 26, 2020 (154)
118 8.3KJPN NC_000010.10 - 44427021 Apr 26, 2021 (155)
119 14KJPN NC_000010.11 - 43931573 Oct 16, 2022 (156)
120 TopMed NC_000010.11 - 43931573 Apr 26, 2021 (155)
121 UK 10K study - Twins NC_000010.10 - 44427021 Oct 12, 2018 (152)
122 A Vietnamese Genetic Variation Database NC_000010.10 - 44427021 Jul 13, 2019 (153)
123 ALFA NC_000010.11 - 43931573 Apr 26, 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)
rs60662387 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638939263, ss3639781099, ss3643833862 NC_000010.8:43747026:G:T NC_000010.11:43931572:G:T (self)
61685, ss174510571, ss201444893, ss210955317, ss280591482, ss479396304, ss1597094700, ss1713175023, ss3642850520, ss3847383793 NC_000010.9:43747026:G:T NC_000010.11:43931572:G:T (self)
49591693, 27536592, 19548304, 2130768, 12275690, 29294706, 10555072, 697779, 12821312, 26069393, 6903160, 55324142, 27536592, 6111621, ss224692097, ss235151069, ss241862335, ss479399549, ss479809791, ss484498148, ss536650603, ss561918570, ss656634801, ss778745274, ss782695622, ss783663781, ss831946663, ss832664130, ss834204896, ss987429335, ss1076941733, ss1337212181, ss1575075248, ss1624459906, ss1667453939, ss1751968711, ss1806361874, ss1930779382, ss1967112786, ss2026113847, ss2154386806, ss2627526079, ss2632704295, ss2698622929, ss2888106588, ss3006370619, ss3349089174, ss3626435141, ss3630730545, ss3632947253, ss3633644285, ss3634400831, ss3635336875, ss3636082601, ss3637087522, ss3637846851, ss3640108173, ss3673810056, ss3737270207, ss3744701735, ss3748033887, ss3772202326, ss3832092183, ss3874052413, ss3922117312, ss3985471852, ss4017482608, ss5197354835, ss5315468826, ss5393078706, ss5509991183, ss5649160483, ss5799810724, ss5824312361, ss5940439435 NC_000010.10:44427020:G:T NC_000010.11:43931572:G:T (self)
65167940, 350477249, 388563, 24143395, 76933572, 65981907, 14989137944, ss2174363716, ss3689768591, ss3813405822, ss3967765394, ss4850436252, ss5283818733, ss5479457798, ss5577642005, ss5743096468, ss5811471261, ss5849540423, ss5878686840 NC_000010.11:43931572:G:T NC_000010.11:43931572:G:T (self)
ss15787323, ss18629824, ss18875315 NT_033985.6:1830333:G:T NC_000010.11:43931572:G:T (self)
ss24085482, ss66908789, ss67037615, ss68093707, ss70506350, ss71032992, ss75718468, ss85027175, ss152867924, ss159151515, ss159935934, ss170724350, ss410780452 NT_033985.7:2072085:G:T NC_000010.11:43931572: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 rs10899952

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.post761+d5e8e07