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rs137853158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853158(G;T)
Make rs137853158(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48229278
GeneLOC105370807, SLC12A1
is asnp
is mentioned by
dbSNPrs137853158
dbSNP (classic)rs137853158
ClinGenrs137853158
ebirs137853158
HLIrs137853158
Exacrs137853158
Gnomadrs137853158
Varsomers137853158
LitVarrs137853158
Maprs137853158
PheGenIrs137853158
Biobankrs137853158
1000 genomesrs137853158
hgdprs137853158
ensemblrs137853158
geneviewrs137853158
scholarrs137853158
googlers137853158
pharmgkbrs137853158
gwascentralrs137853158
openSNPrs137853158
23andMers137853158
SNPshotrs137853158
SNPdbers137853158
MSV3drs137853158
GWAS Ctlgrs137853158
Max Magnitude0
OMIM600839
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853158(T;T)
Alt rs137853158(T;T)
Reference Rs137853158(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48521475G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009296.4,