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rs137853069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853069(C;T)
Make rs137853069(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position160042042
GeneKCNJ10
is asnp
is mentioned by
dbSNPrs137853069
dbSNP (classic)rs137853069
ClinGenrs137853069
ebirs137853069
HLIrs137853069
Exacrs137853069
Gnomadrs137853069
Varsomers137853069
LitVarrs137853069
Maprs137853069
PheGenIrs137853069
Biobankrs137853069
1000 genomesrs137853069
hgdprs137853069
ensemblrs137853069
geneviewrs137853069
scholarrs137853069
googlers137853069
pharmgkbrs137853069
gwascentralrs137853069
openSNPrs137853069
23andMers137853069
SNPshotrs137853069
SNPdbers137853069
MSV3drs137853069
GWAS Ctlgrs137853069
Max Magnitude0
OMIM602208
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853069(T;T)
Alt rs137853069(T;T)
Reference Rs137853069(C;C)
Significance Pathogenic
Disease SeSAME syndrome
Variation info
Gene KCNJ10
CLNDBN SeSAME syndrome
Reversed 1
HGVS NC_000001.10:g.160011832G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007891.3,