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rs12918964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12918964(C;T)
Make rs12918964(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position47698565
GenePHKB
is asnp
is mentioned by
dbSNPrs12918964
ebirs12918964
HLIrs12918964
Exacrs12918964
Varsomers12918964
Maprs12918964
PheGenIrs12918964
hapmaprs12918964
1000 genomesrs12918964
hgdprs12918964
ensemblrs12918964
gopubmedrs12918964
geneviewrs12918964
scholarrs12918964
googlers12918964
pharmgkbrs12918964
gwascentralrs12918964
openSNPrs12918964
23andMers12918964
23andMe allrs12918964
SNP Nexus

SNPshotrs12918964
SNPdbers12918964
MSV3drs12918964
GWAS Ctlgrs12918964
GMAF0.001377
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene PHKB
allele T
frequency 0
sift AFFECT FUNCTION
HuRef 1103645467957
Disease Association Defects in PHKB are the cause of phosphorylase kinase deficiency of liver and muscle (PKD) (MIM:172490). PKD is an autosomal recessive glycogen storage disorder. Defects that have been characterized to date are very mild, with few physical complaints other than hepathomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity.