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rs137853157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853157(A;A)
Make rs137853157(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48251770
GeneLOC107984758, SLC12A1
is asnp
is mentioned by
dbSNPrs137853157
dbSNP (classic)rs137853157
ClinGenrs137853157
ebirs137853157
HLIrs137853157
Exacrs137853157
Gnomadrs137853157
Varsomers137853157
LitVarrs137853157
Maprs137853157
PheGenIrs137853157
Biobankrs137853157
1000 genomesrs137853157
hgdprs137853157
ensemblrs137853157
geneviewrs137853157
scholarrs137853157
googlers137853157
pharmgkbrs137853157
gwascentralrs137853157
openSNPrs137853157
23andMers137853157
SNPshotrs137853157
SNPdbers137853157
MSV3drs137853157
GWAS Ctlgrs137853157
Max Magnitude0
OMIM600839
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853157(A;A)
Alt rs137853157(A;A)
Reference Rs137853157(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48543967G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009295.3,