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rs137853074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853074(C;T)
Make rs137853074(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position160041491
GeneKCNJ10
is asnp
is mentioned by
dbSNPrs137853074
ebirs137853074
HLIrs137853074
Exacrs137853074
Varsomers137853074
Maprs137853074
PheGenIrs137853074
hapmaprs137853074
1000 genomesrs137853074
hgdprs137853074
ensemblrs137853074
gopubmedrs137853074
geneviewrs137853074
scholarrs137853074
googlers137853074
pharmgkbrs137853074
gwascentralrs137853074
openSNPrs137853074
23andMers137853074
23andMe allrs137853074
SNP Nexus

SNPshotrs137853074
SNPdbers137853074
MSV3drs137853074
GWAS Ctlgrs137853074
GMAF0.0004591
Max Magnitude0
OMIM602208
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853074(T;T)
Alt rs137853074(T;T)
Reference rs137853074(C;C)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome
Variation info
Gene KCNJ10
CLNDBN Enlarged vestibular aqueduct syndrome
Reversed 1
HGVS NC_000001.10:g.160011281G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007896.3,