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rs104894246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894246(C;T)
Make rs104894246(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position128839660
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs104894246
ebirs104894246
HLIrs104894246
Exacrs104894246
Varsomers104894246
Maprs104894246
PheGenIrs104894246
hapmaprs104894246
1000 genomesrs104894246
hgdprs104894246
ensemblrs104894246
gopubmedrs104894246
geneviewrs104894246
scholarrs104894246
googlers104894246
pharmgkbrs104894246
gwascentralrs104894246
openSNPrs104894246
23andMers104894246
23andMe allrs104894246
SNP Nexus

SNPshotrs104894246
SNPdbers104894246
MSV3drs104894246
GWAS Ctlgrs104894246
Max Magnitude0
OMIM600359
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894246(G,T;G,T)
Alt rs104894246(G,T;G,T)
Reference rs104894246(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal
Reversed 1
HGVS NC_000011.9:g.128709555G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009727.2,