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rs104894245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894245(C;G)
Make rs104894245(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position128839644
GeneKCNJ1
is asnp
is mentioned by
dbSNPrs104894245
ebirs104894245
HLIrs104894245
Exacrs104894245
Varsomers104894245
Maprs104894245
PheGenIrs104894245
hapmaprs104894245
1000 genomesrs104894245
hgdprs104894245
ensemblrs104894245
gopubmedrs104894245
geneviewrs104894245
scholarrs104894245
googlers104894245
pharmgkbrs104894245
gwascentralrs104894245
openSNPrs104894245
23andMers104894245
23andMe allrs104894245
SNP Nexus

SNPshotrs104894245
SNPdbers104894245
MSV3drs104894245
GWAS Ctlgrs104894245
Max Magnitude0
OMIM600359
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894245(G;G)
Alt rs104894245(G;G)
Reference rs104894245(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene KCNJ1
CLNDBN Bartter syndrome, type 2, antenatal
Reversed 1
HGVS NC_000011.9:g.128709539G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009725.5,