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rs119103251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103251(A;A)
Make rs119103251(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position64757826
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs119103251
ebirs119103251
HLIrs119103251
Exacrs119103251
Varsomers119103251
Maprs119103251
PheGenIrs119103251
hapmaprs119103251
1000 genomesrs119103251
hgdprs119103251
ensemblrs119103251
gopubmedrs119103251
geneviewrs119103251
scholarrs119103251
googlers119103251
pharmgkbrs119103251
gwascentralrs119103251
openSNPrs119103251
23andMers119103251
23andMe allrs119103251
SNP Nexus

SNPshotrs119103251
SNPdbers119103251
MSV3drs119103251
GWAS Ctlgrs119103251
GMAF0.0004591
Max Magnitude0
OMIM608455
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103251(A;A)
Alt rs119103251(A;A)
Reference rs119103251(G;G)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64525298C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002389.6,