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rs1057520300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520300(-;-)
Make rs1057520300(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48234926
GeneSLC12A1
is asnp
is mentioned by
dbSNPrs1057520300
dbSNP (classic)rs1057520300
ClinGenrs1057520300
ebirs1057520300
HLIrs1057520300
Exacrs1057520300
Gnomadrs1057520300
Varsomers1057520300
LitVarrs1057520300
Maprs1057520300
PheGenIrs1057520300
Biobankrs1057520300
1000 genomesrs1057520300
hgdprs1057520300
ensemblrs1057520300
geneviewrs1057520300
scholarrs1057520300
googlers1057520300
pharmgkbrs1057520300
gwascentralrs1057520300
openSNPrs1057520300
23andMers1057520300
23andMe allrs1057520300
SNPshotrs1057520300
SNPdbers1057520300
MSV3drs1057520300
GWAS Ctlgrs1057520300
Max Magnitude0
ClinVar
Risk rs1057520300(-;-)
Alt rs1057520300(-;-)
Reference Rs1057520300(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48527123delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000427573.1,