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rs1529927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1529927(C;C)
Make rs1529927(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position56870675
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs1529927
ebirs1529927
HLIrs1529927
Exacrs1529927
Varsomers1529927
Maprs1529927
PheGenIrs1529927
hapmaprs1529927
1000 genomesrs1529927
hgdprs1529927
ensemblrs1529927
gopubmedrs1529927
geneviewrs1529927
scholarrs1529927
googlers1529927
pharmgkbrs1529927
gwascentralrs1529927
openSNPrs1529927
23andMers1529927
23andMe allrs1529927
SNP Nexus

SNPshotrs1529927
SNPdbers1529927
MSV3drs1529927
GWAS Ctlgrs1529927
GMAF0.01791
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene SLC12A3
allele G
frequency 0.917
sift TOLERATED
HuRef 1103645483078
Disease Association Defects in SLC12A3 are the cause of Gitelman syndrome (GS) (MIM:263800). GS is an autosomal recessive disease characterized by diverse abnormalities in electrolyte homeostasis including hypokalaemic metabolic alkalosis. GS is a subset of Bartter syndrome.



Neighborrs28936388
Distance556


GET Evidence
SLC12A3-A264G
aa_change Ala264Gly
aa_change_short A264G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.973136
summary