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rs1057520304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057520304(-;-)
Make rs1057520304(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48251661
GeneLOC107984758, SLC12A1
is asnp
is mentioned by
dbSNPrs1057520304
dbSNP (classic)rs1057520304
ClinGenrs1057520304
ebirs1057520304
HLIrs1057520304
Exacrs1057520304
Gnomadrs1057520304
Varsomers1057520304
LitVarrs1057520304
Maprs1057520304
PheGenIrs1057520304
Biobankrs1057520304
1000 genomesrs1057520304
hgdprs1057520304
ensemblrs1057520304
geneviewrs1057520304
scholarrs1057520304
googlers1057520304
pharmgkbrs1057520304
gwascentralrs1057520304
openSNPrs1057520304
23andMers1057520304
23andMe allrs1057520304
SNPshotrs1057520304
SNPdbers1057520304
MSV3drs1057520304
GWAS Ctlgrs1057520304
Max Magnitude0
ClinVar
Risk rs1057520304(-;-)
Alt rs1057520304(-;-)
Reference Rs1057520304(T;T)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48543858delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000418206.1,