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rs764313717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 McArdle disease, mild form (also known as glycogen storage disease type V)
(C;T) 3 Carrier of a McArdle disease mutation (mild form)
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position64758375
GenePYGM
is asnp
is mentioned by
dbSNPrs764313717
dbSNP (old)rs764313717
ClinGenrs764313717
ebirs764313717
HLIrs764313717
Exacrs764313717
Gnomadrs764313717
Varsomers764313717
Maprs764313717
PheGenIrs764313717
Biobankrs764313717
1000 genomesrs764313717
hgdprs764313717
ensemblrs764313717
gopubmedrs764313717
geneviewrs764313717
scholarrs764313717
googlers764313717
pharmgkbrs764313717
gwascentralrs764313717
openSNPrs764313717
23andMers764313717
23andMe allrs764313717
SNP Nexus

SNPshotrs764313717
SNPdbers764313717
MSV3drs764313717
GWAS Ctlgrs764313717
Max Magnitude5

PYGM gene, c.425_528del; this is a splice site mutation resulting in an abnormally spliced protein (lacking exon 4)


ClinVar
Risk Rs764313717(C;C)
Alt Rs764313717(C;C)
Reference Rs764313717(T;T)
Significance Pathogenic
Disease McArdle disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN McArdle disease, mild Glycogen storage disease, type V
Reversed 0
HGVS NC_000011.9:g.64525847T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002406.4, RCV000454242.1,