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rs119103253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103253(A;A)
Make rs119103253(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position64751331
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs119103253
ebirs119103253
HLIrs119103253
Exacrs119103253
Varsomers119103253
Maprs119103253
PheGenIrs119103253
hapmaprs119103253
1000 genomesrs119103253
hgdprs119103253
ensemblrs119103253
gopubmedrs119103253
geneviewrs119103253
scholarrs119103253
googlers119103253
pharmgkbrs119103253
gwascentralrs119103253
openSNPrs119103253
23andMers119103253
23andMe allrs119103253
SNP Nexus

SNPshotrs119103253
SNPdbers119103253
MSV3drs119103253
GWAS Ctlgrs119103253
Max Magnitude0
OMIM608455
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119103253(A;A)
Alt rs119103253(A;A)
Reference rs119103253(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.64518803C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002392.3,