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rs119103254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103254(C;C)
Make rs119103254(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64753931
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs119103254
ebirs119103254
HLIrs119103254
Exacrs119103254
Varsomers119103254
Maprs119103254
PheGenIrs119103254
hapmaprs119103254
1000 genomesrs119103254
hgdprs119103254
ensemblrs119103254
gopubmedrs119103254
geneviewrs119103254
scholarrs119103254
googlers119103254
pharmgkbrs119103254
gwascentralrs119103254
openSNPrs119103254
23andMers119103254
23andMe allrs119103254
SNP Nexus

SNPshotrs119103254
SNPdbers119103254
MSV3drs119103254
GWAS Ctlgrs119103254
Max Magnitude0
OMIM608455
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119103254(C;C)
Alt rs119103254(C;C)
Reference rs119103254(T;T)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64521403A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002394.3,