Skip to main page content
Accesskeys

dbSNP Short Genetic Variations

Reference SNP (rs) Report

Alpha

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.

rs10157379

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr1:247442297 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.39525 (49631/125568, TOPMED)
C=0.3935 (12152/30884, GnomAD)
C=0.378 (1891/5008, 1000G) (+ 2 more)
C=0.370 (1427/3854, ALSPAC)
C=0.382 (1417/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NLRP3 : Intron Variant
Publications
1 citation
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 1 NC_000001.11:g.247442297C>G
GRCh38.p7 chr 1 NC_000001.11:g.247442297C>T
GRCh37.p13 chr 1 NC_000001.10:g.247605599C>G
GRCh37.p13 chr 1 NC_000001.10:g.247605599C>T
NLRP3 RefSeqGene (LRG_197) NG_007509.2:g.31125C>G
NLRP3 RefSeqGene (LRG_197) NG_007509.2:g.31125C>T
Gene: NLRP3, NLR family, pyrin domain containing 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NLRP3 transcript variant 3 NM_001079821.2:c. N/A Intron Variant
NLRP3 transcript variant 4 NM_001127461.2:c. N/A Intron Variant
NLRP3 transcript variant 5 NM_001127462.2:c. N/A Intron Variant
NLRP3 transcript variant 6 NM_001243133.1:c. N/A Intron Variant
NLRP3 transcript variant 1 NM_004895.4:c. N/A Intron Variant
NLRP3 transcript variant 2 NM_183395.2:c. N/A Intron Variant
NLRP3 transcript variant X1 XM_011544048.2:c. N/A Intron Variant
NLRP3 transcript variant X5 XM_011544053.2:c. N/A Intron Variant
NLRP3 transcript variant X7 XM_011544055.2:c. N/A Intron Variant
NLRP3 transcript variant X2 XM_017000181.1:c. N/A Intron Variant
NLRP3 transcript variant X3 XM_017000182.1:c. N/A Intron Variant
NLRP3 transcript variant X4 XM_017000183.1:c. N/A Intron Variant
NLRP3 transcript variant X6 XM_017000184.1: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
Trans-Omics for Precision Medicine Global Study-wide 125568 C=0.39525 T=0.60475
The Genome Aggregation Database Global Study-wide 30884 C=0.3935 T=0.6065
The Genome Aggregation Database European Sub 18456 C=0.3791 T=0.6209
The Genome Aggregation Database African Sub 8702 C=0.416 T=0.584
The Genome Aggregation Database East Asian Sub 1604 C=0.409 T=0.591
The Genome Aggregation Database Other Sub 982 C=0.40 T=0.60
The Genome Aggregation Database American Sub 838 C=0.39 T=0.61
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.51 T=0.49
1000Genomes Global Study-wide 5008 C=0.378 T=0.622
1000Genomes African Sub 1322 C=0.399 T=0.601
1000Genomes East Asian Sub 1008 C=0.384 T=0.616
1000Genomes Europe Sub 1006 C=0.355 T=0.645
1000Genomes South Asian Sub 978 C=0.38 T=0.62
1000Genomes American Sub 694 C=0.36 T=0.64
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.370 T=0.630
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.382 T=0.618
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 C= G T Note
GRCh38.p7 chr 1 NC_000001.11:g.24...

NC_000001.11:g.247442297C=

NC_000001.11:g.24...

NC_000001.11:g.247442297C>G

NC_000001.11:g.24...

NC_000001.11:g.247442297C>T

GRCh37.p13 chr 1 NC_000001.10:g.24...

NC_000001.10:g.247605599C=

NC_000001.10:g.24...

NC_000001.10:g.247605599C>G

NC_000001.10:g.24...

NC_000001.10:g.247605599C>T

NLRP3 RefSeqGene (LRG_197) NG_007509.2:g.311...

NG_007509.2:g.31125C=

NG_007509.2:g.311...

NG_007509.2:g.31125C>G

NG_007509.2:g.311...

NG_007509.2:g.31125C>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#.

5 Frequency, 68 SubSNP submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss14018300 Dec 05, 2003 (119)
2 ILLUMINA ss66631944 Nov 29, 2006 (127)
3 ILLUMINA ss66873202 Nov 29, 2006 (127)
4 ILLUMINA ss66953483 Nov 29, 2006 (127)
5 ILLUMINA ss70360571 May 16, 2007 (127)
6 ILLUMINA ss70468719 May 26, 2008 (130)
7 ILLUMINA ss70990244 May 16, 2007 (127)
8 ILLUMINA ss75511056 Dec 06, 2007 (129)
9 KRIBB_YJKIM ss84914425 Dec 16, 2007 (130)
10 HGSV ss86183367 Dec 16, 2007 (130)
11 HGSV ss86192744 Dec 16, 2007 (130)
12 BGI ss106647991 Feb 06, 2009 (130)
13 1000GENOMES ss109136614 Jan 23, 2009 (130)
14 1000GENOMES ss112114647 Jan 25, 2009 (130)
15 ILLUMINA-UK ss119287796 Feb 15, 2009 (130)
16 ILLUMINA ss121275262 Dec 01, 2009 (131)
17 ILLUMINA ss152587731 Dec 01, 2009 (131)
18 GMI ss156564089 Dec 01, 2009 (131)
19 ILLUMINA ss159112744 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss165636625 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss165962022 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss167597260 Jul 04, 2010 (132)
23 ILLUMINA ss169291457 Jul 04, 2010 (132)
24 ILLUMINA ss169768707 Jul 04, 2010 (132)
25 BUSHMAN ss199904061 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss205113377 Jul 04, 2010 (132)
27 1000GENOMES ss219005731 Jul 14, 2010 (132)
28 1000GENOMES ss230995523 Jul 14, 2010 (132)
29 1000GENOMES ss238590480 Jul 15, 2010 (132)
30 BL ss253949108 May 09, 2011 (134)
31 GMI ss276310589 May 04, 2012 (137)
32 GMI ss284270982 Apr 25, 2013 (138)
33 PJP ss290789465 May 09, 2011 (134)
34 ILLUMINA ss536583386 Sep 08, 2015 (146)
35 TISHKOFF ss555287598 Apr 25, 2013 (138)
36 SSMP ss648863288 Apr 25, 2013 (138)
37 ILLUMINA ss825330302 Jul 19, 2016 (147)
38 EVA-GONL ss976383868 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1068781867 Aug 21, 2014 (142)
40 1000GENOMES ss1295529200 Aug 21, 2014 (142)
41 DDI ss1426184623 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1574833183 Apr 01, 2015 (144)
43 EVA_DECODE ss1585786944 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1602606493 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1645600526 Apr 01, 2015 (144)
46 EVA_SVP ss1712423732 Apr 01, 2015 (144)
47 HAMMER_LAB ss1796086728 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1919608113 Feb 12, 2016 (147)
49 ILLUMINA ss1958378445 Feb 12, 2016 (147)
50 GENOMED ss1967031492 Jul 19, 2016 (147)
51 JJLAB ss2020332374 Sep 14, 2016 (149)
52 USC_VALOUEV ss2148372078 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2171862709 Dec 20, 2016 (150)
54 TOPMED ss2334548897 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2624680590 Nov 08, 2017 (151)
56 GRF ss2698379556 Nov 08, 2017 (151)
57 GNOMAD ss2768681868 Nov 08, 2017 (151)
58 SWEGEN ss2988819761 Nov 08, 2017 (151)
59 ILLUMINA ss3021203205 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3023929549 Nov 08, 2017 (151)
61 TOPMED ss3109023764 Nov 08, 2017 (151)
62 TOPMED ss3109023765 Nov 08, 2017 (151)
63 CSHL ss3344022993 Nov 08, 2017 (151)
64 ILLUMINA ss3626361607 Jul 19, 2018 (151)
65 ILLUMINA ss3637827590 Jul 19, 2018 (151)
66 ILLUMINA ss3638929050 Jul 19, 2018 (151)
67 ILLUMINA ss3639463709 Jul 19, 2018 (151)
68 ILLUMINA ss3642832897 Jul 19, 2018 (151)
69 1000Genomes NC_000001.10 - 247605599 Jul 19, 2018 (151)
70 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 247605599 Jul 19, 2018 (151)
71 The Genome Aggregation Database NC_000001.10 - 247605599 Jul 19, 2018 (151)
72 Trans-Omics for Precision Medicine NC_000001.11 - 247442297 Jul 19, 2018 (151)
73 UK 10K study - Twins NC_000001.10 - 247605599 Jul 19, 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)
rs61185390 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss86183367, ss86192744, ss3638929050, ss3639463709 NC_000001.8:243931639:C= NC_000001.11:247442296:C= (self)
ss109136614, ss112114647, ss119287796, ss165636625, ss165962022, ss167597260, ss199904061, ss205113377, ss253949108, ss276310589, ss284270982, ss290789465, ss825330302, ss1585786944, ss1712423732, ss3642832897 NC_000001.9:245672221:C= NC_000001.11:247442296:C= (self)
6416961, 3554152, 18081067, 3554152, ss219005731, ss230995523, ss238590480, ss536583386, ss555287598, ss648863288, ss976383868, ss1068781867, ss1295529200, ss1426184623, ss1574833183, ss1602606493, ss1645600526, ss1796086728, ss1919608113, ss1958378445, ss1967031492, ss2020332374, ss2148372078, ss2334548897, ss2624680590, ss2698379556, ss2768681868, ss2988819761, ss3021203205, ss3344022993, ss3626361607, ss3637827590 NC_000001.10:247605598:C= NC_000001.11:247442296:C= (self)
34383320, ss2171862709, ss3023929549, ss3109023764, ss3109023765 NC_000001.11:247442296:C= NC_000001.11:247442296:C= (self)
ss14018300 NT_004836.15:12268962:C= NC_000001.11:247442296:C= (self)
ss66631944, ss66873202, ss66953483, ss70360571, ss70468719, ss70990244, ss75511056, ss84914425, ss106647991, ss121275262, ss152587731, ss156564089, ss159112744, ss169291457, ss169768707 NT_167186.1:41123377:C= NC_000001.11:247442296:C= (self)
ss3109023764 NC_000001.11:247442296:C>G NC_000001.11:247442296:C>G (self)
ss86183367, ss86192744, ss3638929050, ss3639463709 NC_000001.8:243931639:C>T NC_000001.11:247442296:C>T (self)
ss109136614, ss112114647, ss119287796, ss165636625, ss165962022, ss167597260, ss199904061, ss205113377, ss253949108, ss276310589, ss284270982, ss290789465, ss825330302, ss1585786944, ss1712423732, ss3642832897 NC_000001.9:245672221:C>T NC_000001.11:247442296:C>T (self)
6416961, 3554152, 18081067, 3554152, ss219005731, ss230995523, ss238590480, ss536583386, ss555287598, ss648863288, ss976383868, ss1068781867, ss1295529200, ss1426184623, ss1574833183, ss1602606493, ss1645600526, ss1796086728, ss1919608113, ss1958378445, ss1967031492, ss2020332374, ss2148372078, ss2334548897, ss2624680590, ss2698379556, ss2768681868, ss2988819761, ss3021203205, ss3344022993, ss3626361607, ss3637827590 NC_000001.10:247605598:C>T NC_000001.11:247442296:C>T (self)
34383320, ss2171862709, ss3023929549, ss3109023765 NC_000001.11:247442296:C>T NC_000001.11:247442296:C>T (self)
ss14018300 NT_004836.15:12268962:C>T NC_000001.11:247442296:C>T (self)
ss66631944, ss66873202, ss66953483, ss70360571, ss70468719, ss70990244, ss75511056, ss84914425, ss106647991, ss121275262, ss152587731, ss156564089, ss159112744, ss169291457, ss169768707 NT_167186.1:41123377:C>T NC_000001.11:247442296:C>T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs10157379
PMID Title Author Year Journal
25551457 No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects. Baumert J et al. 2014 PloS one

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