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rs119103252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a McArdle disease mutation
(C;C) 5 McArdle disease (also known as glycogen storage disease type V)
ReferenceGRCh38 38.1/141
Chromosome11
Position64752064
GenePYGM
is asnp
is mentioned by
dbSNPrs119103252
dbSNP (classic)rs119103252
ClinGenrs119103252
ebirs119103252
HLIrs119103252
Exacrs119103252
Gnomadrs119103252
Varsomers119103252
LitVarrs119103252
Maprs119103252
PheGenIrs119103252
Biobankrs119103252
1000 genomesrs119103252
hgdprs119103252
ensemblrs119103252
geneviewrs119103252
scholarrs119103252
googlers119103252
pharmgkbrs119103252
gwascentralrs119103252
openSNPrs119103252
23andMers119103252
SNPshotrs119103252
SNPdbers119103252
MSV3drs119103252
GWAS Ctlgrs119103252
Max Magnitude5

PYGM gene, c.1628A>C, p.Lys543Thr or K543T

23andMe name: i5005800

OMIM608455
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs119103252(C;C)
Alt Rs119103252(C;C)
Reference Rs119103252(A;A)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64519536T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002390.6,