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rs1057520302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057520302(-;C)
Make rs1057520302(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48288430
GeneLOC107984755, SLC12A1
is asnp
is mentioned by
dbSNPrs1057520302
dbSNP (old)rs1057520302
ClinGenrs1057520302
ebirs1057520302
HLIrs1057520302
Exacrs1057520302
Gnomadrs1057520302
Varsomers1057520302
Maprs1057520302
PheGenIrs1057520302
Biobankrs1057520302
1000 genomesrs1057520302
hgdprs1057520302
ensemblrs1057520302
gopubmedrs1057520302
geneviewrs1057520302
scholarrs1057520302
googlers1057520302
pharmgkbrs1057520302
gwascentralrs1057520302
openSNPrs1057520302
23andMers1057520302
23andMe allrs1057520302
SNPshotrs1057520302
SNPdbers1057520302
MSV3drs1057520302
GWAS Ctlgrs1057520302
Max Magnitude0
ClinVar
Risk rs1057520302(C;C)
Alt rs1057520302(C;C)
Reference Rs1057520302(-;-)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48580627dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000430820.1,