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rs104894251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894251(A;A)
Make rs104894251(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position128839929
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs104894251
ebirs104894251
HLIrs104894251
Exacrs104894251
Varsomers104894251
Maprs104894251
PheGenIrs104894251
hapmaprs104894251
1000 genomesrs104894251
hgdprs104894251
ensemblrs104894251
gopubmedrs104894251
geneviewrs104894251
scholarrs104894251
googlers104894251
pharmgkbrs104894251
gwascentralrs104894251
openSNPrs104894251
23andMers104894251
23andMe allrs104894251
SNP Nexus

SNPshotrs104894251
SNPdbers104894251
MSV3drs104894251
GWAS Ctlgrs104894251
Max Magnitude0
OMIM600359
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894251(A,C;A,C)
Alt rs104894251(A,C;A,C)
Reference rs104894251(T;T)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal
Reversed 1
HGVS NC_000011.9:g.128709824A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009732.2,