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rs764313717

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs764313717(C;C)
Make rs764313717(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position64758375
GenePYGM
is asnp
is mentioned by
dbSNPrs764313717
ebirs764313717
HLIrs764313717
Exacrs764313717
Varsomers764313717
Maprs764313717
PheGenIrs764313717
hapmaprs764313717
1000 genomesrs764313717
hgdprs764313717
ensemblrs764313717
gopubmedrs764313717
geneviewrs764313717
scholarrs764313717
googlers764313717
pharmgkbrs764313717
gwascentralrs764313717
openSNPrs764313717
23andMers764313717
23andMe allrs764313717
SNP Nexus

SNPshotrs764313717
SNPdbers764313717
MSV3drs764313717
GWAS Ctlgrs764313717
Max Magnitude0
ClinVar
Risk rs764313717(C;C)
Alt rs764313717(C;C)
Reference rs764313717(T;T)
Significance Pathogenic
Disease McArdle disease
Variation info
Gene PYGM
CLNDBN McArdle disease, mild
Reversed 0
HGVS NC_000011.9:g.64525847T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002406.4,