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rs104894250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894250(C;C)
Make rs104894250(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position128839979
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs104894250
ebirs104894250
HLIrs104894250
Exacrs104894250
Varsomers104894250
Maprs104894250
PheGenIrs104894250
hapmaprs104894250
1000 genomesrs104894250
hgdprs104894250
ensemblrs104894250
gopubmedrs104894250
geneviewrs104894250
scholarrs104894250
googlers104894250
pharmgkbrs104894250
gwascentralrs104894250
openSNPrs104894250
23andMers104894250
23andMe allrs104894250
SNP Nexus

SNPshotrs104894250
SNPdbers104894250
MSV3drs104894250
GWAS Ctlgrs104894250
Max Magnitude0
OMIM600359
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894250(C;C)
Alt rs104894250(C;C)
Reference rs104894250(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal
Reversed 1
HGVS NC_000011.9:g.128709874C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009731.2,