Skip to main page content
Accesskeys

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 Aliases 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.

rs8011855

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr14:39134831 (GRCh38.p12) 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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.06917 (8685/125568, TOPMED)
A=0.0696 (2183/31372, GnomAD)
A=0.097 (485/5008, 1000G) (+ 5 more)
A=0.057 (257/4480, Estonian)
A=0.065 (250/3854, ALSPAC)
A=0.072 (268/3708, TWINSUK)
A=0.05 (31/600, NorthernSweden)
A=0.06 (13/212, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GEMIN2 : 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.p12 chr 14 NC_000014.9:g.39134831A>G
GRCh37.p13 chr 14 NC_000014.8:g.39604035A>G
GEMIN2 RefSeqGene NG_016643.1:g.25548A>G
Gene: GEMIN2, gem nuclear organelle associated protein 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GEMIN2 transcript variant beta NM_001009182.1:c. N/A Intron Variant
GEMIN2 transcript variant gamma NM_001009183.1:c. N/A Intron Variant
GEMIN2 transcript variant alpha NM_003616.2:c. N/A Intron Variant
GEMIN2 transcript variant X1 XM_017021709.1:c. N/A Intron Variant
GEMIN2 transcript variant X2 XM_024449731.1:c. 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
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 125568 A=0.06917 G=0.93083
gnomAD - Genomes Global Study-wide 31372 A=0.0696 G=0.9304
gnomAD - Genomes European Sub 18888 A=0.0661 G=0.9339
gnomAD - Genomes African Sub 8706 A=0.070 G=0.930
gnomAD - Genomes East Asian Sub 1554 A=0.051 G=0.949
gnomAD - Genomes Other Sub 1088 A=0.098 G=0.902
gnomAD - Genomes American Sub 846 A=0.14 G=0.86
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.07 G=0.93
1000Genomes Global Study-wide 5008 A=0.097 G=0.903
1000Genomes African Sub 1322 A=0.067 G=0.933
1000Genomes East Asian Sub 1008 A=0.058 G=0.942
1000Genomes Europe Sub 1006 A=0.065 G=0.935
1000Genomes South Asian Sub 978 A=0.15 G=0.85
1000Genomes American Sub 694 A=0.18 G=0.82
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.057 G=0.943
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.065 G=0.935
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.072 G=0.928
Northern Sweden ACPOP Study-wide 600 A=0.05 G=0.95
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.06 G=0.94
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 A= G Note
GRCh38.p12 chr 14 NC_000014.9:g.39134831= NC_000014.9:g.39134831A>G
GRCh37.p13 chr 14 NC_000014.8:g.39604035= NC_000014.8:g.39604035A>G
GEMIN2 RefSeqGene NG_016643.1:g.25548= NG_016643.1:g.25548A>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#.

66 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12286275 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss19982751 Feb 27, 2004 (120)
3 SSAHASNP ss21184196 Apr 05, 2004 (121)
4 AFFY ss66088643 Dec 01, 2006 (127)
5 AFFY ss76039668 Dec 07, 2007 (129)
6 HGSV ss79871757 Dec 15, 2007 (130)
7 KRIBB_YJKIM ss82533424 Dec 15, 2007 (138)
8 HGSV ss82920763 Dec 15, 2007 (130)
9 BCMHGSC_JDW ss89915919 Mar 24, 2008 (129)
10 HUMANGENOME_JCVI ss96852088 Feb 06, 2009 (130)
11 BGI ss106380836 Feb 06, 2009 (130)
12 1000GENOMES ss108261511 Jan 23, 2009 (130)
13 1000GENOMES ss113181294 Jan 25, 2009 (130)
14 ILLUMINA-UK ss118417910 Feb 14, 2009 (130)
15 ENSEMBL ss133927190 Dec 01, 2009 (131)
16 ENSEMBL ss137063423 Dec 01, 2009 (131)
17 GMI ss155667430 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss167883459 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss169219532 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss170992054 Jul 04, 2010 (132)
21 BUSHMAN ss199957645 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss206852296 Jul 04, 2010 (132)
23 1000GENOMES ss226519941 Jul 14, 2010 (132)
24 1000GENOMES ss236504060 Jul 15, 2010 (132)
25 1000GENOMES ss242945924 Jul 15, 2010 (132)
26 BL ss254920010 May 09, 2011 (134)
27 GMI ss281964927 May 04, 2012 (137)
28 GMI ss286824303 Apr 25, 2013 (138)
29 PJP ss291705162 May 09, 2011 (134)
30 TISHKOFF ss564037349 Apr 25, 2013 (138)
31 SSMP ss659703039 Apr 25, 2013 (138)
32 EVA-GONL ss991045284 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1079577154 Aug 21, 2014 (142)
34 1000GENOMES ss1350630491 Aug 21, 2014 (142)
35 DDI ss1427393445 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1577187329 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1631540432 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1674534465 Apr 01, 2015 (144)
39 EVA_DECODE ss1695039771 Apr 01, 2015 (144)
40 EVA_SVP ss1713438140 Apr 01, 2015 (144)
41 HAMMER_LAB ss1807881148 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1934421490 Feb 12, 2016 (147)
43 GENOMED ss1967939674 Jul 19, 2016 (147)
44 JJLAB ss2027985871 Sep 14, 2016 (149)
45 USC_VALOUEV ss2156358768 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2201208673 Dec 20, 2016 (150)
47 TOPMED ss2365523078 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2628482433 Nov 08, 2017 (151)
49 GRF ss2700777598 Nov 08, 2017 (151)
50 GNOMAD ss2926629839 Nov 08, 2017 (151)
51 AFFY ss2985019930 Nov 08, 2017 (151)
52 AFFY ss2985653384 Nov 08, 2017 (151)
53 SWEGEN ss3012047564 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3027816361 Nov 08, 2017 (151)
55 TOPMED ss3208738646 Nov 08, 2017 (151)
56 CSHL ss3350760459 Nov 08, 2017 (151)
57 URBANLAB ss3650186259 Oct 12, 2018 (152)
58 ILLUMINA ss3653790476 Oct 12, 2018 (152)
59 EGCUT_WGS ss3679291777 Jul 13, 2019 (153)
60 EVA_DECODE ss3696494642 Jul 13, 2019 (153)
61 ACPOP ss3740297203 Jul 13, 2019 (153)
62 EVA ss3752206769 Jul 13, 2019 (153)
63 PACBIO ss3787639722 Jul 13, 2019 (153)
64 PACBIO ss3792682324 Jul 13, 2019 (153)
65 PACBIO ss3797566444 Jul 13, 2019 (153)
66 KHV_HUMAN_GENOMES ss3817539284 Jul 13, 2019 (153)
67 1000Genomes NC_000014.8 - 39604035 Oct 12, 2018 (152)
68 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 39604035 Oct 12, 2018 (152)
69 Genetic variation in the Estonian population NC_000014.8 - 39604035 Oct 12, 2018 (152)
70 gnomAD - Genomes NC_000014.8 - 39604035 Jul 13, 2019 (153)
71 Northern Sweden NC_000014.8 - 39604035 Jul 13, 2019 (153)
72 TopMed NC_000014.9 - 39134831 Oct 12, 2018 (152)
73 UK 10K study - Twins NC_000014.8 - 39604035 Oct 12, 2018 (152)
74 A Vietnamese Genetic Variation Database NC_000014.8 - 39604035 Jul 13, 2019 (153)
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)
rs59485513 Apr 25, 2013 (138)
rs60711397 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66088643, ss76039668, ss79871757, ss82920763, ss89915919, ss108261511, ss113181294, ss118417910, ss167883459, ss169219532, ss170992054, ss199957645, ss206852296, ss254920010, ss281964927, ss286824303, ss291705162, ss1695039771, ss1713438140 NC_000014.7:38673785:A:G NC_000014.9:39134830:A:G (self)
63596255, 35328851, 25030025, 173593789, 13582068, 35328851, 7856513, ss226519941, ss236504060, ss242945924, ss564037349, ss659703039, ss991045284, ss1079577154, ss1350630491, ss1427393445, ss1577187329, ss1631540432, ss1674534465, ss1807881148, ss1934421490, ss1967939674, ss2027985871, ss2156358768, ss2365523078, ss2628482433, ss2700777598, ss2926629839, ss2985019930, ss2985653384, ss3012047564, ss3350760459, ss3653790476, ss3679291777, ss3740297203, ss3752206769, ss3787639722, ss3792682324, ss3797566444 NC_000014.8:39604034:A:G NC_000014.9:39134830:A:G (self)
114450917, ss2201208673, ss3027816361, ss3208738646, ss3650186259, ss3696494642, ss3817539284 NC_000014.9:39134830:A:G NC_000014.9:39134830:A:G (self)
ss12286275, ss19982751, ss21184196 NT_026437.10:19524073:A:G NC_000014.9:39134830:A:G (self)
ss82533424, ss96852088, ss106380836, ss133927190, ss137063423, ss155667430 NT_026437.12:20604034:A:G NC_000014.9:39134830:A:G (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 rs8011855

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.post308+0fe9b3b