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rs104894254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894254(A;A)
Make rs104894254(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position128839801
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs104894254
ebirs104894254
HLIrs104894254
Exacrs104894254
Varsomers104894254
Maprs104894254
PheGenIrs104894254
hapmaprs104894254
1000 genomesrs104894254
hgdprs104894254
ensemblrs104894254
gopubmedrs104894254
geneviewrs104894254
scholarrs104894254
googlers104894254
pharmgkbrs104894254
gwascentralrs104894254
openSNPrs104894254
23andMers104894254
23andMe allrs104894254
SNP Nexus

SNPshotrs104894254
SNPdbers104894254
MSV3drs104894254
GWAS Ctlgrs104894254
Max Magnitude0
OMIM600359
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894254(A;A)
Alt rs104894254(A;A)
Reference rs104894254(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal
Reversed 1
HGVS NC_000011.9:g.128709696C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009730.2,