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rs946616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs946616(A;A)
Make rs946616(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position50921064
GenePYGL
is asnp
is mentioned by
dbSNPrs946616
ebirs946616
HLIrs946616
Exacrs946616
Varsomers946616
Maprs946616
PheGenIrs946616
hapmaprs946616
1000 genomesrs946616
hgdprs946616
ensemblrs946616
gopubmedrs946616
geneviewrs946616
scholarrs946616
googlers946616
pharmgkbrs946616
gwascentralrs946616
openSNPrs946616
23andMers946616
23andMe allrs946616
SNP Nexus

SNPshotrs946616
SNPdbers946616
MSV3drs946616
GWAS Ctlgrs946616
GMAF0.08724
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene PYGL
allele T
frequency 0.1
sift TOLERATED
HuRef 1103649060504
Disease Association Defects in PYGL are the cause of glycogen storage disease type VI (GSD-VI) (MIM:232700); also known as Hers disease. Clinically, GSD-VI is characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly.



GET Evidence
PYGL-V222I
aa_change Val222Ile
aa_change_short V222I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.106154
summary