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rs137853068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853068(C;C)
Make rs137853068(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position160042115
GeneKCNJ10
is asnp
is mentioned by
dbSNPrs137853068
dbSNP (classic)rs137853068
ClinGenrs137853068
ebirs137853068
HLIrs137853068
Exacrs137853068
Gnomadrs137853068
Varsomers137853068
LitVarrs137853068
Maprs137853068
PheGenIrs137853068
Biobankrs137853068
1000 genomesrs137853068
hgdprs137853068
ensemblrs137853068
geneviewrs137853068
scholarrs137853068
googlers137853068
pharmgkbrs137853068
gwascentralrs137853068
openSNPrs137853068
23andMers137853068
SNPshotrs137853068
SNPdbers137853068
MSV3drs137853068
GWAS Ctlgrs137853068
Max Magnitude0
OMIM602208
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853068(C;C)
Alt rs137853068(C;C)
Reference Rs137853068(T;T)
Significance Pathogenic
Disease SeSAME syndrome
Variation info
Gene KCNJ10
CLNDBN SeSAME syndrome
Reversed 1
HGVS NC_000001.10:g.160011905A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007890.3,