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rs765347751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs765347751(A;A)
Make rs765347751(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48246978
GeneLOC107984758, SLC12A1
is asnp
is mentioned by
dbSNPrs765347751
dbSNP (old)rs765347751
ClinGenrs765347751
ebirs765347751
HLIrs765347751
Exacrs765347751
Gnomadrs765347751
Varsomers765347751
Maprs765347751
PheGenIrs765347751
Biobankrs765347751
1000 genomesrs765347751
hgdprs765347751
ensemblrs765347751
gopubmedrs765347751
geneviewrs765347751
scholarrs765347751
googlers765347751
pharmgkbrs765347751
gwascentralrs765347751
openSNPrs765347751
23andMers765347751
23andMe allrs765347751
SNP Nexus

SNPshotrs765347751
SNPdbers765347751
MSV3drs765347751
GWAS Ctlgrs765347751
Max Magnitude0
ClinVar
Risk rs765347751(A;A)
Alt rs765347751(A;A)
Reference Rs765347751(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene SLC12A1
CLNDBN Bartter syndrome, type 1, antenatal
Reversed 0
HGVS NC_000015.9:g.48539175G>A
CLNSRC
CLNACC RCV000200351.1,