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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs3211770

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr13:113139535 (GRCh38.p7) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.11100 (13938/125568, TOPMED)
A=0.1039 (3215/30930, GnomAD)
A=0.112 (563/5008, 1000G) (+ 2 more)
A=0.109 (420/3854, ALSPAC)
A=0.115 (428/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
F10 : 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.p7 chr 13 NC_000013.11:g.113139535G>A
GRCh37.p13 chr 13 NC_000013.10:g.113793849G>A
F10 RefSeqGene (LRG_548) NG_009258.1:g.21737G>A
Gene: F10, coagulation factor X (plus strand)
Molecule type Change Amino acid[Codon] SO Term
F10 transcript variant 1 NM_000504.3:c. N/A Intron Variant
F10 transcript variant 2 NM_001312674.1:c. N/A Intron Variant
F10 transcript variant 3 NM_001312675.1: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").

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Study Population Group Sample Size Ref Allele Alt Allele
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.88900 A=0.11100
The Genome Aggregation Database Global Study-wide 30930 G=0.8961 A=0.1039
The Genome Aggregation Database European Sub 18478 G=0.8959 A=0.1041
The Genome Aggregation Database African Sub 8710 G=0.882 A=0.118
The Genome Aggregation Database East Asian Sub 1620 G=0.986 A=0.014
The Genome Aggregation Database Other Sub 982 G=0.88 A=0.12
The Genome Aggregation Database American Sub 838 G=0.91 A=0.09
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.81 A=0.19
1000Genomes Global Study-wide 5008 G=0.888 A=0.112
1000Genomes African Sub 1322 G=0.885 A=0.115
1000Genomes East Asian Sub 1008 G=0.987 A=0.013
1000Genomes Europe Sub 1006 G=0.873 A=0.127
1000Genomes South Asian Sub 978 G=0.80 A=0.20
1000Genomes American Sub 694 G=0.89 A=0.11
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.891 A=0.109
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.885 A=0.115
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 Note
GRCh38.p7 chr 13 NC_000013.11:g.113139535G= NC_000013.11:g.11313953...

NC_000013.11:g.113139535G>A

GRCh37.p13 chr 13 NC_000013.10:g.113793849G= NC_000013.10:g.11379384...

NC_000013.10:g.113793849G>A

F10 RefSeqGene (LRG_548) NG_009258.1:g.21737G= NG_009258.1:g.21737G>A
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#.

5 Frequency, 68 SubSNP submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss4442592 May 29, 2002 (105)
2 PGA-UW-FHCRC ss52086561 Oct 15, 2006 (127)
3 ILLUMINA ss66713809 Nov 30, 2006 (127)
4 ILLUMINA ss67292807 Nov 30, 2006 (127)
5 ILLUMINA ss67696595 Nov 30, 2006 (127)
6 PERLEGEN ss69149460 May 17, 2007 (127)
7 RSG_JCVI ss69359057 May 17, 2007 (127)
8 ILLUMINA ss70771400 May 23, 2008 (130)
9 ILLUMINA ss71346730 May 17, 2007 (127)
10 ILLUMINA ss75648671 Dec 06, 2007 (129)
11 SI_EXO ss76898646 Dec 06, 2007 (129)
12 ILLUMINA ss79160043 Dec 14, 2007 (130)
13 KRIBB_YJKIM ss84156852 Dec 14, 2007 (130)
14 ILLUMINA ss122180348 Dec 01, 2009 (131)
15 ILLUMINA ss154256875 Dec 01, 2009 (131)
16 ILLUMINA ss159433402 Dec 01, 2009 (131)
17 ILLUMINA ss171561524 Jul 04, 2010 (132)
18 ILLUMINA ss173574643 Jul 04, 2010 (132)
19 BUSHMAN ss199761718 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss208600316 Jul 04, 2010 (132)
21 1000GENOMES ss211479084 Jul 14, 2010 (132)
22 1000GENOMES ss226438815 Jul 14, 2010 (132)
23 1000GENOMES ss236444929 Jul 15, 2010 (132)
24 1000GENOMES ss242898980 Jul 15, 2010 (132)
25 ILLUMINA ss244294109 Jul 04, 2010 (132)
26 BL ss255336633 May 09, 2011 (134)
27 GMI ss286794703 Apr 25, 2013 (138)
28 ILLUMINA ss483158018 May 04, 2012 (137)
29 ILLUMINA ss484203695 May 04, 2012 (137)
30 ILLUMINA ss536391127 Sep 08, 2015 (146)
31 TISHKOFF ss563943803 Apr 25, 2013 (138)
32 SSMP ss659593456 Apr 25, 2013 (138)
33 ILLUMINA ss780565745 Sep 08, 2015 (146)
34 ILLUMINA ss782547814 Sep 08, 2015 (146)
35 ILLUMINA ss825490561 Apr 01, 2015 (144)
36 ILLUMINA ss836058116 Sep 08, 2015 (146)
37 EVA-GONL ss990882356 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1079460329 Aug 21, 2014 (142)
39 1000GENOMES ss1350015146 Aug 21, 2014 (142)
40 DDI ss1427339226 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1577092897 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1631231134 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1674225167 Apr 01, 2015 (144)
44 EVA_MGP ss1711363933 Apr 01, 2015 (144)
45 EVA_SVP ss1713426605 Apr 01, 2015 (144)
46 WEILL_CORNELL_DGM ss1934247913 Feb 12, 2016 (147)
47 ILLUMINA ss1959533160 Feb 12, 2016 (147)
48 JJLAB ss2027899460 Sep 14, 2016 (149)
49 USC_VALOUEV ss2156268684 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2200010775 Dec 20, 2016 (150)
51 TOPMED ss2364263205 Dec 20, 2016 (150)
52 ILLUMINA ss2633120330 Nov 08, 2017 (151)
53 ILLUMINA ss2635049772 Nov 08, 2017 (151)
54 GNOMAD ss2924750758 Nov 08, 2017 (151)
55 AFFY ss2985012605 Nov 08, 2017 (151)
56 AFFY ss2985648538 Nov 08, 2017 (151)
57 SWEGEN ss3011760502 Nov 08, 2017 (151)
58 ILLUMINA ss3021545131 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3027773653 Nov 08, 2017 (151)
60 TOPMED ss3204459056 Nov 08, 2017 (151)
61 CSHL ss3350680489 Nov 08, 2017 (151)
62 ILLUMINA ss3627164128 Jul 20, 2018 (151)
63 ILLUMINA ss3631120534 Jul 20, 2018 (151)
64 ILLUMINA ss3638036368 Jul 20, 2018 (151)
65 ILLUMINA ss3639031853 Jul 20, 2018 (151)
66 ILLUMINA ss3639520269 Jul 20, 2018 (151)
67 ILLUMINA ss3641864637 Jul 20, 2018 (151)
68 ILLUMINA ss3643024196 Jul 20, 2018 (151)
69 1000Genomes NC_000013.10 - 113793849 Jul 20, 2018 (151)
70 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 113793849 Jul 20, 2018 (151)
71 The Genome Aggregation Database NC_000013.10 - 113793849 Jul 20, 2018 (151)
72 Trans-Omics for Precision Medicine NC_000013.11 - 113139535 Jul 20, 2018 (151)
73 UK 10K study - Twins NC_000013.10 - 113793849 Jul 20, 2018 (151)
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)
rs56742142 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss199761718, ss208600316, ss211479084, ss255336633, ss286794703, ss483158018, ss825490561, ss1713426605, ss2635049772, ss3639031853, ss3639520269, ss3643024196 NC_000013.9:112841849:G= NC_000013.11:113139534:G= (self)
62957732, 34987624, 58452282, 34987624, ss226438815, ss236444929, ss242898980, ss484203695, ss536391127, ss563943803, ss659593456, ss780565745, ss782547814, ss836058116, ss990882356, ss1079460329, ss1350015146, ss1427339226, ss1577092897, ss1631231134, ss1674225167, ss1711363933, ss1934247913, ss1959533160, ss2027899460, ss2156268684, ss2364263205, ss2633120330, ss2924750758, ss2985012605, ss2985648538, ss3011760502, ss3021545131, ss3350680489, ss3627164128, ss3631120534, ss3638036368, ss3641864637 NC_000013.10:113793848:G= NC_000013.11:113139534:G= (self)
111255662, ss2200010775, ss3027773653, ss3204459056 NC_000013.11:113139534:G= NC_000013.11:113139534:G= (self)
ss4442592, ss52086561, ss66713809, ss67292807, ss67696595, ss69149460, ss69359057, ss70771400, ss71346730, ss75648671, ss76898646, ss79160043, ss84156852, ss122180348, ss154256875, ss159433402, ss171561524, ss173574643, ss244294109 NT_027140.6:1289854:G= NC_000013.11:113139534:G= (self)
ss199761718, ss208600316, ss211479084, ss255336633, ss286794703, ss483158018, ss825490561, ss1713426605, ss2635049772, ss3639031853, ss3639520269, ss3643024196 NC_000013.9:112841849:G>A NC_000013.11:113139534:G>A (self)
62957732, 34987624, 58452282, 34987624, ss226438815, ss236444929, ss242898980, ss484203695, ss536391127, ss563943803, ss659593456, ss780565745, ss782547814, ss836058116, ss990882356, ss1079460329, ss1350015146, ss1427339226, ss1577092897, ss1631231134, ss1674225167, ss1711363933, ss1934247913, ss1959533160, ss2027899460, ss2156268684, ss2364263205, ss2633120330, ss2924750758, ss2985012605, ss2985648538, ss3011760502, ss3021545131, ss3350680489, ss3627164128, ss3631120534, ss3638036368, ss3641864637 NC_000013.10:113793848:G>A NC_000013.11:113139534:G>A (self)
111255662, ss2200010775, ss3027773653, ss3204459056 NC_000013.11:113139534:G>A NC_000013.11:113139534:G>A (self)
ss4442592, ss52086561, ss66713809, ss67292807, ss67696595, ss69149460, ss69359057, ss70771400, ss71346730, ss75648671, ss76898646, ss79160043, ss84156852, ss122180348, ss154256875, ss159433402, ss171561524, ss173574643, ss244294109 NT_027140.6:1289854:G>A NC_000013.11:113139534:G>A (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 rs3211770

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: 0.1.4.post833+d3ba21e