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rs398124208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a McArdle disease mutation
(G;G) 0 common in clinvar


Make rs398124208(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position64753556
GenePYGM
is asnp
is mentioned by
dbSNPrs398124208
dbSNP (classic)rs398124208
ClinGenrs398124208
ebirs398124208
HLIrs398124208
Exacrs398124208
Gnomadrs398124208
Varsomers398124208
LitVarrs398124208
Maprs398124208
PheGenIrs398124208
Biobankrs398124208
1000 genomesrs398124208
hgdprs398124208
ensemblrs398124208
geneviewrs398124208
scholarrs398124208
googlers398124208
pharmgkbrs398124208
gwascentralrs398124208
openSNPrs398124208
23andMers398124208
23andMe allrs398124208
SNPshotrs398124208
SNPdbers398124208
MSV3drs398124208
GWAS Ctlgrs398124208
Max Magnitude3
ClinVar
Risk rs398124208(A;A)
Alt rs398124208(A;A)
Reference Rs398124208(G;G)
Significance Other
Disease not provided Glycogen storage disease
Variation info
Gene PYGM
CLNDBN not provided Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64521028C>T
CLNSRC HGMD
CLNACC RCV000081304.3, RCV000169330.2,