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rs1057520301

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520301(A;A)
Make rs1057520301(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48251711
GeneLOC107984758, SLC12A1
is asnp
is mentioned by
dbSNPrs1057520301
dbSNP (old)rs1057520301
ClinGenrs1057520301
ebirs1057520301
HLIrs1057520301
Exacrs1057520301
Gnomadrs1057520301
Varsomers1057520301
Maprs1057520301
PheGenIrs1057520301
Biobankrs1057520301
1000 genomesrs1057520301
hgdprs1057520301
ensemblrs1057520301
gopubmedrs1057520301
geneviewrs1057520301
scholarrs1057520301
googlers1057520301
pharmgkbrs1057520301
gwascentralrs1057520301
openSNPrs1057520301
23andMers1057520301
23andMe allrs1057520301
SNPshotrs1057520301
SNPdbers1057520301
MSV3drs1057520301
GWAS Ctlgrs1057520301
Max Magnitude0
ClinVar
Risk rs1057520301(A;A)
Alt rs1057520301(A;A)
Reference Rs1057520301(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48543908C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000420163.1,