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rs104894253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894253(A;A)
Make rs104894253(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position128839709
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs104894253
ebirs104894253
HLIrs104894253
Exacrs104894253
Varsomers104894253
Maprs104894253
PheGenIrs104894253
hapmaprs104894253
1000 genomesrs104894253
hgdprs104894253
ensemblrs104894253
gopubmedrs104894253
geneviewrs104894253
scholarrs104894253
googlers104894253
pharmgkbrs104894253
gwascentralrs104894253
openSNPrs104894253
23andMers104894253
23andMe allrs104894253
SNP Nexus

SNPshotrs104894253
SNPdbers104894253
MSV3drs104894253
GWAS Ctlgrs104894253
Max Magnitude0
OMIM600359
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894253(A,T;A,T)
Alt rs104894253(A,T;A,T)
Reference rs104894253(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal
Reversed 1
HGVS NC_000011.9:g.128709604C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009729.4,