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rs119103257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103257(G;T)
Make rs119103257(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64752071
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs119103257
ebirs119103257
HLIrs119103257
Exacrs119103257
Varsomers119103257
Maprs119103257
PheGenIrs119103257
hapmaprs119103257
1000 genomesrs119103257
hgdprs119103257
ensemblrs119103257
gopubmedrs119103257
geneviewrs119103257
scholarrs119103257
googlers119103257
pharmgkbrs119103257
gwascentralrs119103257
openSNPrs119103257
23andMers119103257
23andMe allrs119103257
SNP Nexus

SNPshotrs119103257
SNPdbers119103257
MSV3drs119103257
GWAS Ctlgrs119103257
Max Magnitude0
OMIM608455
Desc
Variant0013
Relatedalso
ClinVar
Risk rs119103257(T;T)
Alt rs119103257(T;T)
Reference rs119103257(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.64519543C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002400.3,