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rs116987552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 McArdle disease (also known as glycogen storage disease type V)
(A;G) 3 Carrier of a McArdle disease mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position64759751
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs116987552
ClinGenrs116987552
ebirs116987552
HLIrs116987552
Exacrs116987552
Varsomers116987552
Maprs116987552
PheGenIrs116987552
hapmaprs116987552
1000 genomesrs116987552
hgdprs116987552
ensemblrs116987552
gopubmedrs116987552
geneviewrs116987552
scholarrs116987552
googlers116987552
pharmgkbrs116987552
gwascentralrs116987552
openSNPrs116987552
23andMers116987552
23andMe allrs116987552
SNP Nexus

SNPshotrs116987552
SNPdbers116987552
MSV3drs116987552
GWAS Ctlgrs116987552
GMAF0.001377
Max Magnitude5

aka c.148C>T, p.Arg50Ter, R50* and R50X; previously referred to as R49X

This (rare) mutation in the PYGM gene is generally considered to be the most frequent mutation leading to McArdle disease, a recessively inherited condition.

23andMe name: i5012656

OMIM608455
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs116987552(A;A)
Alt Rs116987552(A;A)
Reference Rs116987552(G;G)
Significance Pathogenic
Disease Glycogen storage disease not provided
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V not provided
Reversed 0
HGVS NC_000011.9:g.64527223G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002388.9, RCV000081306.5,