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dbSNP Short Genetic Variations

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.


Current Build 152

Released October 2, 2018

Homo sapiens
chr16:3256917 (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.

Variation Type
SNV Single Nucleotide Variation
T=0.01028 (1291/125568, TOPMED)
T=0.0151 (467/30952, GnomAD)
T=0.004 (21/5008, 1000G) (+ 3 more)
T=0.033 (148/4480, Estonian)
T=0.018 (68/3854, ALSPAC)
T=0.015 (55/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MEFV : 2KB Upstream Variant
0 citations
Genomic View
See rs on genome

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 16 NC_000016.10:g.3256917C>T
GRCh37.p13 chr 16 NC_000016.9:g.3306917C>T
MEFV RefSeqGene (LRG_190) NG_007871.1:g.4711G>A
Gene: MEFV, MEFV, pyrin innate immunity regulator (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MEFV transcript variant 1 NM_000243.2:c. N/A Upstream Transcript Variant
MEFV transcript variant 2 NM_001198536.1:c. N/A Upstream Transcript Variant
MEFV transcript variant X1 XM_017023236.2:c. N/A Upstream Transcript Variant
MEFV transcript variant X2 XR_001751903.1:n. N/A Upstream Transcript Variant

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

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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.98972 T=0.01028
gnomAD - Genomes Global Study-wide 30952 C=0.9849 T=0.0151
gnomAD - Genomes European Sub 18482 C=0.9770 T=0.0230
gnomAD - Genomes African Sub 8732 C=0.998 T=0.002
gnomAD - Genomes East Asian Sub 1618 C=1.000 T=0.000
gnomAD - Genomes Other Sub 982 C=0.99 T=0.01
gnomAD - Genomes American Sub 838 C=0.99 T=0.01
gnomAD - Genomes Ashkenazi Jewish Sub 300 C=1.00 T=0.00
1000Genomes Global Study-wide 5008 C=0.996 T=0.004
1000Genomes African Sub 1322 C=1.000 T=0.000
1000Genomes East Asian Sub 1008 C=1.000 T=0.000
1000Genomes Europe Sub 1006 C=0.981 T=0.019
1000Genomes South Asian Sub 978 C=1.00 T=0.00
1000Genomes American Sub 694 C=1.00 T=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.967 T=0.033
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.982 T=0.018
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.985 T=0.015

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= T Note
GRCh38.p12 chr 16 NC_000016.10:g.3256917C= NC_000016.10:g.3256917C>T
GRCh37.p13 chr 16 NC_000016.9:g.3306917C= NC_000016.9:g.3306917C>T
MEFV RefSeqGene (LRG_190) NG_007871.1:g.4711G= NG_007871.1:g.4711G>A

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#.

18 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 IIPGA-WEISS-MARTINEZ ss15356105 Feb 28, 2004 (120)
2 COMPLETE_GENOMICS ss170842148 Jul 04, 2010 (132)
3 1000GENOMES ss236922930 Jul 15, 2010 (132)
4 ILLUMINA ss534795382 Sep 08, 2015 (146)
5 EVA-GONL ss992202896 Aug 21, 2014 (142)
6 1000GENOMES ss1355076905 Aug 21, 2014 (142)
7 EVA_UK10K_ALSPAC ss1633845837 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1676839870 Apr 01, 2015 (144)
9 EVA_DECODE ss1696235551 Apr 01, 2015 (144)
10 JJLAB ss2028591608 Sep 14, 2016 (149)
11 USC_VALOUEV ss2157002508 Dec 20, 2016 (150)
12 HUMAN_LONGEVITY ss2210010847 Dec 20, 2016 (150)
13 TOPMED ss2374623634 Dec 20, 2016 (150)
14 GNOMAD ss2939486963 Nov 08, 2017 (151)
15 SWEGEN ss3013945125 Nov 08, 2017 (151)
16 TOPMED ss3238151745 Nov 08, 2017 (151)
17 CSHL ss3351299621 Nov 08, 2017 (151)
18 ILLUMINA ss3627460523 Oct 12, 2018 (152)
19 1000Genomes NC_000016.9 - 3306917 Oct 12, 2018 (152)
20 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 3306917 Oct 12, 2018 (152)
21 Genetic variation in the Estonian population NC_000016.9 - 3306917 Oct 12, 2018 (152)
22 gnomAD - Genomes NC_000016.9 - 3306917 Oct 12, 2018 (152)
23 TopMed NC_000016.10 - 3256917 Oct 12, 2018 (152)
24 UK 10K study - Twins NC_000016.9 - 3306917 Oct 12, 2018 (152)

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
ss170842148, ss1696235551 NC_000016.8:3246917:C:T NC_000016.10:3256916:C:T (self)
68204902, 37867806, 26807173, 73188490, 37867806, ss236922930, ss534795382, ss992202896, ss1355076905, ss1633845837, ss1676839870, ss2028591608, ss2157002508, ss2374623634, ss2939486963, ss3013945125, ss3351299621, ss3627460523 NC_000016.9:3306916:C:T NC_000016.10:3256916:C:T (self)
138054710, ss2210010847, ss3238151745 NC_000016.10:3256916:C:T NC_000016.10:3256916:C:T (self)
ss15356105 NT_010393.16:3246916:C:T NC_000016.10:3256916:C:T (self)

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

No publications for rs11466013

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.post104+4a6ee9c