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rs886039884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs886039884(-;-)
Make rs886039884(-;T)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position48234952
GeneSLC12A1
is asnp
is mentioned by
dbSNPrs886039884
dbSNP (classic)rs886039884
ClinGenrs886039884
ebirs886039884
HLIrs886039884
Exacrs886039884
Gnomadrs886039884
Varsomers886039884
LitVarrs886039884
Maprs886039884
PheGenIrs886039884
Biobankrs886039884
1000 genomesrs886039884
hgdprs886039884
ensemblrs886039884
geneviewrs886039884
scholarrs886039884
googlers886039884
pharmgkbrs886039884
gwascentralrs886039884
openSNPrs886039884
23andMers886039884
23andMe allrs886039884
SNPshotrs886039884
SNPdbers886039884
MSV3drs886039884
GWAS Ctlgrs886039884
Max Magnitude0
ClinVar
Risk rs886039884(-;-)
Alt rs886039884(-;-)
Reference Rs886039884(T;T)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48527149delT
CLNSRC
CLNACC RCV000256407.1,