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rs119103254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5 McArdle disease (also known as glycogen storage disease type V)
(C;T) 3 Carrier of a McArdle disease mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position64753931
GenePYGM
is asnp
is mentioned by
dbSNPrs119103254
dbSNP (classic)rs119103254
ClinGenrs119103254
ebirs119103254
HLIrs119103254
Exacrs119103254
Gnomadrs119103254
Varsomers119103254
LitVarrs119103254
Maprs119103254
PheGenIrs119103254
Biobankrs119103254
1000 genomesrs119103254
hgdprs119103254
ensemblrs119103254
geneviewrs119103254
scholarrs119103254
googlers119103254
pharmgkbrs119103254
gwascentralrs119103254
openSNPrs119103254
23andMers119103254
SNPshotrs119103254
SNPdbers119103254
MSV3drs119103254
GWAS Ctlgrs119103254
Max Magnitude5
OMIM608455
Desc
Variant0006
Relatedalso
ClinVar
Risk Rs119103254(C;C)
Alt Rs119103254(C;C)
Reference Rs119103254(T;T)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64521403A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002394.4,