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rs137853070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853070(C;T)
Make rs137853070(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position160042033
GeneKCNJ10
is asnp
is mentioned by
dbSNPrs137853070
dbSNP (classic)rs137853070
ClinGenrs137853070
ebirs137853070
HLIrs137853070
Exacrs137853070
Gnomadrs137853070
Varsomers137853070
LitVarrs137853070
Maprs137853070
PheGenIrs137853070
Biobankrs137853070
1000 genomesrs137853070
hgdprs137853070
ensemblrs137853070
geneviewrs137853070
scholarrs137853070
googlers137853070
pharmgkbrs137853070
gwascentralrs137853070
openSNPrs137853070
23andMers137853070
SNPshotrs137853070
SNPdbers137853070
MSV3drs137853070
GWAS Ctlgrs137853070
Max Magnitude0
OMIM602208
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853070(T;T)
Alt rs137853070(T;T)
Reference Rs137853070(C;C)
Significance Pathogenic
Disease SeSAME syndrome
Variation info
Gene KCNJ10
CLNDBN SeSAME syndrome
Reversed 1
HGVS NC_000001.10:g.160011823G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007892.2,