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rs104894244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894244(C;G)
Make rs104894244(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position128840064
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs104894244
ebirs104894244
HLIrs104894244
Exacrs104894244
Varsomers104894244
Maprs104894244
PheGenIrs104894244
hapmaprs104894244
1000 genomesrs104894244
hgdprs104894244
ensemblrs104894244
gopubmedrs104894244
geneviewrs104894244
scholarrs104894244
googlers104894244
pharmgkbrs104894244
gwascentralrs104894244
openSNPrs104894244
23andMers104894244
23andMe allrs104894244
SNP Nexus

SNPshotrs104894244
SNPdbers104894244
MSV3drs104894244
GWAS Ctlgrs104894244
Max Magnitude0
OMIM600359
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894244(G,T;G,T)
Alt rs104894244(G,T;G,T)
Reference rs104894244(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal
Reversed 1
HGVS NC_000011.9:g.128709959G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009723.2,