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rs35804026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35804026(C;C)
Make rs35804026(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position74737424
GeneTRPM6
is asnp
is mentioned by
dbSNPrs35804026
ebirs35804026
HLIrs35804026
Exacrs35804026
Varsomers35804026
Maprs35804026
PheGenIrs35804026
hapmaprs35804026
1000 genomesrs35804026
hgdprs35804026
ensemblrs35804026
gopubmedrs35804026
geneviewrs35804026
scholarrs35804026
googlers35804026
pharmgkbrs35804026
gwascentralrs35804026
openSNPrs35804026
23andMers35804026
23andMe allrs35804026
SNP Nexus

SNPshotrs35804026
SNPdbers35804026
MSV3drs35804026
GWAS Ctlgrs35804026
GMAF0.006887
Max Magnitude0
Venter snp
Source plos
Gene TRPM6
allele C
frequency
sift
HuRef 1103652098200
Disease Association Defects in TRPM6 are the cause of hypomagnesemia with secondary hypocalcemia (HOMG) (MIM:602014); also known as HSH. HOMG is an autosomal recessive disease characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium.