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rs185212943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs185212943(C;C)
Make rs185212943(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position128839982
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs185212943
dbSNP (classic)rs185212943
ClinGenrs185212943
ebirs185212943
HLIrs185212943
Exacrs185212943
Gnomadrs185212943
Varsomers185212943
LitVarrs185212943
Maprs185212943
PheGenIrs185212943
Biobankrs185212943
1000 genomesrs185212943
hgdprs185212943
ensemblrs185212943
geneviewrs185212943
scholarrs185212943
googlers185212943
pharmgkbrs185212943
gwascentralrs185212943
openSNPrs185212943
23andMers185212943
23andMe allrs185212943
SNPshotrs185212943
SNPdbers185212943
MSV3drs185212943
GWAS Ctlgrs185212943
Max Magnitude0
ClinVar
Risk rs185212943(A;A) rs185212943(C;C)
Alt rs185212943(A;A) rs185212943(C;C)
Reference Rs185212943(T;T)
Significance Pathogenic
Disease Bartter syndrome not provided Antenatal Bartter Syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal not provided Antenatal Bartter Syndrome
Reversed 0
HGVS NC_000011.9:g.128709877T>A; NC_000011.9:g.128709877T>C
CLNSRC
CLNACC RCV000414946.1, RCV000054579.1, RCV000356282.1,