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rs398124210

From SNPedia

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


Make rs398124210(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position64747274
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs398124210
dbSNP (classic)rs398124210
ClinGenrs398124210
ebirs398124210
HLIrs398124210
Exacrs398124210
Gnomadrs398124210
Varsomers398124210
LitVarrs398124210
Maprs398124210
PheGenIrs398124210
Biobankrs398124210
1000 genomesrs398124210
hgdprs398124210
ensemblrs398124210
geneviewrs398124210
scholarrs398124210
googlers398124210
pharmgkbrs398124210
gwascentralrs398124210
openSNPrs398124210
23andMers398124210
SNPshotrs398124210
SNPdbers398124210
MSV3drs398124210
GWAS Ctlgrs398124210
Max Magnitude3
ClinVar
Risk rs398124210(-;-)
Alt rs398124210(-;-)
Reference Rs398124210(A;A)
Significance Pathogenic
Disease not provided Glycogen storage disease
Variation info
Gene PYGM RASGRP2
CLNDBN not provided Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64514746delT
CLNSRC HGMD
CLNACC RCV000081311.3, RCV000175318.1,