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rs1057520303

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057520303(-;-)
Make rs1057520303(-;GA)
Make rs1057520303(GA;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48285118
GeneLOC107984755, SLC12A1
is asnp
is mentioned by
dbSNPrs1057520303
dbSNP (old)rs1057520303
ClinGenrs1057520303
ebirs1057520303
HLIrs1057520303
Exacrs1057520303
Gnomadrs1057520303
Varsomers1057520303
Maprs1057520303
PheGenIrs1057520303
Biobankrs1057520303
1000 genomesrs1057520303
hgdprs1057520303
ensemblrs1057520303
gopubmedrs1057520303
geneviewrs1057520303
scholarrs1057520303
googlers1057520303
pharmgkbrs1057520303
gwascentralrs1057520303
openSNPrs1057520303
23andMers1057520303
23andMe allrs1057520303
SNPshotrs1057520303
SNPdbers1057520303
MSV3drs1057520303
GWAS Ctlgrs1057520303
Max Magnitude0
ClinVar
Risk rs1057520303(-;-)
Alt rs1057520303(-;-)
Reference Rs1057520303(AG;AG)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48577315_48577316delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000438920.1,