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rs119103252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119103252(A;C)
Make rs119103252(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position64752064
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs119103252
ebirs119103252
HLIrs119103252
Exacrs119103252
Varsomers119103252
Maprs119103252
PheGenIrs119103252
hapmaprs119103252
1000 genomesrs119103252
hgdprs119103252
ensemblrs119103252
gopubmedrs119103252
geneviewrs119103252
scholarrs119103252
googlers119103252
pharmgkbrs119103252
gwascentralrs119103252
openSNPrs119103252
23andMers119103252
23andMe allrs119103252
SNP Nexus

SNPshotrs119103252
SNPdbers119103252
MSV3drs119103252
GWAS Ctlgrs119103252
Max Magnitude0
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
CLNACC RCV000002390.6,