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rs137853159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853159(A;A)
Make rs137853159(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48251703
GeneLOC107984758, SLC12A1
is asnp
is mentioned by
dbSNPrs137853159
dbSNP (classic)rs137853159
ClinGenrs137853159
ebirs137853159
HLIrs137853159
Exacrs137853159
Gnomadrs137853159
Varsomers137853159
LitVarrs137853159
Maprs137853159
PheGenIrs137853159
Biobankrs137853159
1000 genomesrs137853159
hgdprs137853159
ensemblrs137853159
geneviewrs137853159
scholarrs137853159
googlers137853159
pharmgkbrs137853159
gwascentralrs137853159
openSNPrs137853159
23andMers137853159
SNPshotrs137853159
SNPdbers137853159
MSV3drs137853159
GWAS Ctlgrs137853159
Max Magnitude0
OMIM600839
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853159(A;A)
Alt rs137853159(A;A)
Reference Rs137853159(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48543900G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009297.4,