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rs886039870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039870(C;C)
Make rs886039870(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position48229307
GeneLOC105370807, SLC12A1
is asnp
is mentioned by
dbSNPrs886039870
dbSNP (classic)rs886039870
ClinGenrs886039870
ebirs886039870
HLIrs886039870
Exacrs886039870
Gnomadrs886039870
Varsomers886039870
LitVarrs886039870
Maprs886039870
PheGenIrs886039870
Biobankrs886039870
1000 genomesrs886039870
hgdprs886039870
ensemblrs886039870
geneviewrs886039870
scholarrs886039870
googlers886039870
pharmgkbrs886039870
gwascentralrs886039870
openSNPrs886039870
23andMers886039870
23andMe allrs886039870
SNPshotrs886039870
SNPdbers886039870
MSV3drs886039870
GWAS Ctlgrs886039870
Max Magnitude0
ClinVar
Risk rs886039870(C;C)
Alt rs886039870(C;C)
Reference Rs886039870(G;G)
Significance Probable-Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48521504G>C
CLNSRC
CLNACC RCV000256371.1,