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rs1057519608

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519608(-;-)
Make rs1057519608(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48259252
GeneSLC12A1
is asnp
is mentioned by
dbSNPrs1057519608
dbSNP (old)rs1057519608
ClinGenrs1057519608
ebirs1057519608
HLIrs1057519608
Exacrs1057519608
Gnomadrs1057519608
Varsomers1057519608
Maprs1057519608
PheGenIrs1057519608
Biobankrs1057519608
1000 genomesrs1057519608
hgdprs1057519608
ensemblrs1057519608
gopubmedrs1057519608
geneviewrs1057519608
scholarrs1057519608
googlers1057519608
pharmgkbrs1057519608
gwascentralrs1057519608
openSNPrs1057519608
23andMers1057519608
23andMe allrs1057519608
SNPshotrs1057519608
SNPdbers1057519608
MSV3drs1057519608
GWAS Ctlgrs1057519608
Max Magnitude0
ClinVar
Risk rs1057519608(-;-)
Alt rs1057519608(-;-)
Reference Rs1057519608(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48551449delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000009299.4,