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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.

rs8011562

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr14:73286721 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.069814 (18479/264690, TOPMED)
C=0.019096 (3460/181190, ALFA)
C=0.063391 (8890/140240, GnomAD) (+ 17 more)
C=0.10523 (8281/78694, PAGE_STUDY)
C=0.03831 (642/16760, 8.3KJPN)
C=0.1010 (506/5008, 1000G)
C=0.0016 (7/4480, Estonian)
C=0.0060 (23/3854, ALSPAC)
C=0.0084 (31/3708, TWINSUK)
C=0.0137 (40/2922, KOREAN)
C=0.0783 (148/1890, HapMap)
C=0.0115 (21/1832, Korea1K)
C=0.008 (8/998, GoNL)
C=0.019 (15/792, PRJEB37584)
C=0.093 (20/216, Qatari)
C=0.023 (5/214, Vietnamese)
T=0.50 (33/66, SGDP_PRJ)
C=0.50 (33/66, SGDP_PRJ)
T=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NUMB : Intron Variant
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 14 NC_000014.9:g.73286721T>C
GRCh37.p13 chr 14 NC_000014.8:g.73753429T>C
NUMB RefSeqGene NG_029061.2:g.176860A>G
Gene: NUMB, NUMB endocytic adaptor protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NUMB transcript variant 1 NM_001005743.2:c.655+389A…

NM_001005743.2:c.655+389A>G

N/A Intron Variant
NUMB transcript variant 2 NM_001005744.2:c.655+389A…

NM_001005744.2:c.655+389A>G

N/A Intron Variant
NUMB transcript variant 4 NM_001005745.2:c.622+389A…

NM_001005745.2:c.622+389A>G

N/A Intron Variant
NUMB transcript variant 5 NM_001320114.2:c.655+389A…

NM_001320114.2:c.655+389A>G

N/A Intron Variant
NUMB transcript variant 3 NM_003744.6:c.622+389A>G N/A Intron 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

ALFA Allele Frequency (New)
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 181190 T=0.980904 C=0.019096
European Sub 155932 T=0.993337 C=0.006663
African Sub 9694 T=0.8223 C=0.1777
African Others Sub 326 T=0.798 C=0.202
African American Sub 9368 T=0.8231 C=0.1769
Asian Sub 710 T=0.969 C=0.031
East Asian Sub 578 T=0.974 C=0.026
Other Asian Sub 132 T=0.947 C=0.053
Latin American 1 Sub 752 T=0.922 C=0.078
Latin American 2 Sub 6320 T=0.9517 C=0.0483
South Asian Sub 192 T=0.849 C=0.151
Other Sub 7590 T=0.9627 C=0.0373


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=0.930186 C=0.069814
gnomAD - Genomes Global Study-wide 140240 T=0.936609 C=0.063391
gnomAD - Genomes European Sub 75964 T=0.99356 C=0.00644
gnomAD - Genomes African Sub 42002 T=0.82065 C=0.17935
gnomAD - Genomes American Sub 13666 T=0.95192 C=0.04808
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9901 C=0.0099
gnomAD - Genomes East Asian Sub 3132 T=0.9863 C=0.0137
gnomAD - Genomes Other Sub 2154 T=0.9373 C=0.0627
The PAGE Study Global Study-wide 78694 T=0.89477 C=0.10523
The PAGE Study AfricanAmerican Sub 32514 T=0.81891 C=0.18109
The PAGE Study Mexican Sub 10810 T=0.95606 C=0.04394
The PAGE Study Asian Sub 8314 T=0.9686 C=0.0314
The PAGE Study PuertoRican Sub 7916 T=0.9253 C=0.0747
The PAGE Study NativeHawaiian Sub 4534 T=0.9921 C=0.0079
The PAGE Study Cuban Sub 4230 T=0.9631 C=0.0369
The PAGE Study Dominican Sub 3828 T=0.9041 C=0.0959
The PAGE Study CentralAmerican Sub 2450 T=0.9347 C=0.0653
The PAGE Study SouthAmerican Sub 1982 T=0.9410 C=0.0590
The PAGE Study NativeAmerican Sub 1260 T=0.9444 C=0.0556
The PAGE Study SouthAsian Sub 856 T=0.813 C=0.187
8.3KJPN JAPANESE Study-wide 16760 T=0.96169 C=0.03831
1000Genomes Global Study-wide 5008 T=0.8990 C=0.1010
1000Genomes African Sub 1322 T=0.8056 C=0.1944
1000Genomes East Asian Sub 1008 T=0.9742 C=0.0258
1000Genomes Europe Sub 1006 T=0.9940 C=0.0060
1000Genomes South Asian Sub 978 T=0.820 C=0.180
1000Genomes American Sub 694 T=0.941 C=0.059
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9984 C=0.0016
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9940 C=0.0060
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9916 C=0.0084
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9863 C=0.0137
HapMap Global Study-wide 1890 T=0.9217 C=0.0783
HapMap American Sub 770 T=0.938 C=0.062
HapMap African Sub 692 T=0.861 C=0.139
HapMap Asian Sub 252 T=0.992 C=0.008
HapMap Europe Sub 176 T=0.989 C=0.011
Korean Genome Project KOREAN Study-wide 1832 T=0.9885 C=0.0115
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.992 C=0.008
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.981 C=0.019
CNV burdens in cranial meningiomas CRM Sub 792 T=0.981 C=0.019
Qatari Global Study-wide 216 T=0.907 C=0.093
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.977 C=0.023
SGDP_PRJ Global Study-wide 66 T=0.50 C=0.50
Siberian Global Study-wide 2 T=0.5 C=0.5
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= C
GRCh38.p13 chr 14 NC_000014.9:g.73286721= NC_000014.9:g.73286721T>C
GRCh37.p13 chr 14 NC_000014.8:g.73753429= NC_000014.8:g.73753429T>C
NUMB RefSeqGene NG_029061.2:g.176860= NG_029061.2:g.176860A>G
NUMB transcript variant 1 NM_001005743.1:c.655+389= NM_001005743.1:c.655+389A>G
NUMB transcript variant 1 NM_001005743.2:c.655+389= NM_001005743.2:c.655+389A>G
NUMB transcript variant 2 NM_001005744.1:c.655+389= NM_001005744.1:c.655+389A>G
NUMB transcript variant 2 NM_001005744.2:c.655+389= NM_001005744.2:c.655+389A>G
NUMB transcript variant 4 NM_001005745.1:c.622+389= NM_001005745.1:c.622+389A>G
NUMB transcript variant 4 NM_001005745.2:c.622+389= NM_001005745.2:c.622+389A>G
NUMB transcript variant 5 NM_001320114.2:c.655+389= NM_001320114.2:c.655+389A>G
NUMB transcript variant 3 NM_003744.5:c.622+389= NM_003744.5:c.622+389A>G
NUMB transcript variant 3 NM_003744.6:c.622+389= NM_003744.6:c.622+389A>G
NUMB transcript variant X1 XM_005268140.1:c.733+389= XM_005268140.1:c.733+389A>G
NUMB transcript variant X2 XM_005268141.1:c.700+389= XM_005268141.1:c.700+389A>G
NUMB transcript variant X3 XM_005268142.1:c.655+389= XM_005268142.1:c.655+389A>G
NUMB transcript variant X4 XM_005268143.1:c.655+389= XM_005268143.1:c.655+389A>G
NUMB transcript variant X5 XM_005268144.1:c.622+389= XM_005268144.1:c.622+389A>G
NUMB transcript variant X6 XM_005268145.1:c.622+389= XM_005268145.1:c.622+389A>G
NUMB transcript variant X7 XM_005268146.1:c.655+389= XM_005268146.1:c.655+389A>G
NUMB transcript variant X8 XM_005268147.1:c.733+389= XM_005268147.1:c.733+389A>G
NUMB transcript variant X9 XM_005268148.1:c.700+389= XM_005268148.1:c.700+389A>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#.

80 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12285744 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss17524008 Feb 27, 2004 (120)
3 ABI ss43569438 Mar 14, 2006 (126)
4 ILLUMINA ss65735793 Oct 16, 2006 (127)
5 ILLUMINA ss74855116 Dec 07, 2007 (129)
6 ILLUMINA-UK ss118577626 Feb 14, 2009 (130)
7 KRIBB_YJKIM ss119579654 Dec 01, 2009 (131)
8 ILLUMINA ss160939479 Dec 01, 2009 (131)
9 ENSEMBL ss161673202 Dec 01, 2009 (131)
10 ILLUMINA ss174668454 Jul 04, 2010 (132)
11 1000GENOMES ss226646958 Jul 14, 2010 (132)
12 1000GENOMES ss236600474 Jul 15, 2010 (132)
13 1000GENOMES ss243022425 Jul 15, 2010 (132)
14 ILLUMINA ss481751106 May 04, 2012 (137)
15 ILLUMINA ss481783085 May 04, 2012 (137)
16 ILLUMINA ss482747038 Sep 08, 2015 (146)
17 ILLUMINA ss485670275 May 04, 2012 (137)
18 ILLUMINA ss537543441 Sep 08, 2015 (146)
19 TISHKOFF ss564183003 Apr 25, 2013 (138)
20 SSMP ss659873302 Apr 25, 2013 (138)
21 ILLUMINA ss778994392 Sep 08, 2015 (146)
22 ILLUMINA ss783280722 Sep 08, 2015 (146)
23 ILLUMINA ss784233710 Sep 08, 2015 (146)
24 ILLUMINA ss832541867 Sep 08, 2015 (146)
25 ILLUMINA ss834456680 Sep 08, 2015 (146)
26 EVA-GONL ss991306662 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1079773159 Aug 21, 2014 (142)
28 1000GENOMES ss1351605024 Aug 21, 2014 (142)
29 EVA_UK10K_ALSPAC ss1632061121 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1675055154 Apr 01, 2015 (144)
31 EVA_DECODE ss1695310479 Apr 01, 2015 (144)
32 EVA_SVP ss1713456079 Apr 01, 2015 (144)
33 ILLUMINA ss1752141480 Sep 08, 2015 (146)
34 HAMMER_LAB ss1807984936 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1934676824 Feb 12, 2016 (147)
36 ILLUMINA ss1946380760 Feb 12, 2016 (147)
37 ILLUMINA ss1959565777 Feb 12, 2016 (147)
38 GENOMED ss1967996795 Jul 19, 2016 (147)
39 CSHL ss2136807177 Nov 08, 2017 (151)
40 USC_VALOUEV ss2156496003 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2203229306 Dec 20, 2016 (150)
42 TOPMED ss2367611895 Dec 20, 2016 (150)
43 ILLUMINA ss2633170385 Nov 08, 2017 (151)
44 GRF ss2700928204 Nov 08, 2017 (151)
45 ILLUMINA ss2710804764 Nov 08, 2017 (151)
46 GNOMAD ss2929408619 Nov 08, 2017 (151)
47 SWEGEN ss3012446982 Nov 08, 2017 (151)
48 ILLUMINA ss3021582724 Nov 08, 2017 (151)
49 TOPMED ss3215119517 Nov 08, 2017 (151)
50 ILLUMINA ss3625662646 Oct 12, 2018 (152)
51 ILLUMINA ss3627254224 Oct 12, 2018 (152)
52 ILLUMINA ss3631167411 Oct 12, 2018 (152)
53 ILLUMINA ss3633081406 Oct 12, 2018 (152)
54 ILLUMINA ss3633785058 Oct 12, 2018 (152)
55 ILLUMINA ss3634583905 Oct 12, 2018 (152)
56 ILLUMINA ss3635474436 Oct 12, 2018 (152)
57 ILLUMINA ss3636273409 Oct 12, 2018 (152)
58 ILLUMINA ss3637225611 Oct 12, 2018 (152)
59 ILLUMINA ss3638059221 Oct 12, 2018 (152)
60 ILLUMINA ss3640291232 Oct 12, 2018 (152)
61 ILLUMINA ss3643045368 Oct 12, 2018 (152)
62 ILLUMINA ss3644633887 Oct 12, 2018 (152)
63 ILLUMINA ss3651977560 Oct 12, 2018 (152)
64 EGCUT_WGS ss3679704032 Jul 13, 2019 (153)
65 EVA_DECODE ss3696976401 Jul 13, 2019 (153)
66 ILLUMINA ss3725460440 Jul 13, 2019 (153)
67 ILLUMINA ss3744124337 Jul 13, 2019 (153)
68 ILLUMINA ss3744884523 Jul 13, 2019 (153)
69 EVA ss3752508182 Jul 13, 2019 (153)
70 PAGE_CC ss3771798784 Jul 13, 2019 (153)
71 ILLUMINA ss3772383303 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3817835060 Jul 13, 2019 (153)
73 SGDP_PRJ ss3881820730 Apr 27, 2020 (154)
74 KRGDB ss3930871735 Apr 27, 2020 (154)
75 KOGIC ss3975229951 Apr 27, 2020 (154)
76 EVA ss3984693871 Apr 26, 2021 (155)
77 EVA ss4017678234 Apr 26, 2021 (155)
78 TOPMED ss4975867958 Apr 26, 2021 (155)
79 TOMMO_GENOMICS ss5213912003 Apr 26, 2021 (155)
80 EVA ss5237542206 Apr 26, 2021 (155)
81 1000Genomes NC_000014.8 - 73753429 Oct 12, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 73753429 Oct 12, 2018 (152)
83 Genetic variation in the Estonian population NC_000014.8 - 73753429 Oct 12, 2018 (152)
84 gnomAD - Genomes NC_000014.9 - 73286721 Apr 26, 2021 (155)
85 Genome of the Netherlands Release 5 NC_000014.8 - 73753429 Apr 27, 2020 (154)
86 HapMap NC_000014.9 - 73286721 Apr 27, 2020 (154)
87 KOREAN population from KRGDB NC_000014.8 - 73753429 Apr 27, 2020 (154)
88 Korean Genome Project NC_000014.9 - 73286721 Apr 27, 2020 (154)
89 The PAGE Study NC_000014.9 - 73286721 Jul 13, 2019 (153)
90 CNV burdens in cranial meningiomas NC_000014.8 - 73753429 Apr 26, 2021 (155)
91 Qatari NC_000014.8 - 73753429 Apr 27, 2020 (154)
92 SGDP_PRJ NC_000014.8 - 73753429 Apr 27, 2020 (154)
93 Siberian NC_000014.8 - 73753429 Apr 27, 2020 (154)
94 8.3KJPN NC_000014.8 - 73753429 Apr 26, 2021 (155)
95 TopMed NC_000014.9 - 73286721 Apr 26, 2021 (155)
96 UK 10K study - Twins NC_000014.8 - 73753429 Oct 12, 2018 (152)
97 A Vietnamese Genetic Variation Database NC_000014.8 - 73753429 Jul 13, 2019 (153)
98 ALFA NC_000014.9 - 73286721 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss118577626, ss481751106, ss1695310479, ss1713456079, ss2136807177, ss3643045368 NC_000014.7:72823181:T:C NC_000014.9:73286720:T:C (self)
64608502, 35902456, 25442280, 16033540, 38049129, 243388, 16718754, 33837710, 9012357, 71881310, 35902456, 7985853, ss226646958, ss236600474, ss243022425, ss481783085, ss482747038, ss485670275, ss537543441, ss564183003, ss659873302, ss778994392, ss783280722, ss784233710, ss832541867, ss834456680, ss991306662, ss1079773159, ss1351605024, ss1632061121, ss1675055154, ss1752141480, ss1807984936, ss1934676824, ss1946380760, ss1959565777, ss1967996795, ss2156496003, ss2367611895, ss2633170385, ss2700928204, ss2710804764, ss2929408619, ss3012446982, ss3021582724, ss3625662646, ss3627254224, ss3631167411, ss3633081406, ss3633785058, ss3634583905, ss3635474436, ss3636273409, ss3637225611, ss3638059221, ss3640291232, ss3644633887, ss3651977560, ss3679704032, ss3744124337, ss3744884523, ss3752508182, ss3772383303, ss3881820730, ss3930871735, ss3984693871, ss4017678234, ss5213912003, ss5237542206 NC_000014.8:73753428:T:C NC_000014.9:73286720:T:C (self)
455535395, 1174880, 31607952, 1020253, 119782854, 191413617, 9622689068, ss2203229306, ss3215119517, ss3696976401, ss3725460440, ss3771798784, ss3817835060, ss3975229951, ss4975867958 NC_000014.9:73286720:T:C NC_000014.9:73286720:T:C (self)
ss12285744, ss17524008 NT_026437.10:53673469:T:C NC_000014.9:73286720:T:C (self)
ss43569438, ss65735793, ss74855116, ss119579654, ss160939479, ss161673202, ss174668454 NT_026437.12:54753428:T:C NC_000014.9:73286720: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 rs8011562

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