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rs863224920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224920(C;G)
Make rs863224920(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48229199
GeneLOC105370807, SLC12A1
is asnp
is mentioned by
dbSNPrs863224920
dbSNP (classic)rs863224920
ClinGenrs863224920
ebirs863224920
HLIrs863224920
Exacrs863224920
Gnomadrs863224920
Varsomers863224920
LitVarrs863224920
Maprs863224920
PheGenIrs863224920
Biobankrs863224920
1000 genomesrs863224920
hgdprs863224920
ensemblrs863224920
geneviewrs863224920
scholarrs863224920
googlers863224920
pharmgkbrs863224920
gwascentralrs863224920
openSNPrs863224920
23andMers863224920
SNPshotrs863224920
SNPdbers863224920
MSV3drs863224920
GWAS Ctlgrs863224920
Max Magnitude0
ClinVar
Risk rs863224920(G;G)
Alt rs863224920(G;G)
Reference Rs863224920(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48521396C>G
CLNSRC
CLNACC RCV000200351.1,