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rs119103258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103258(C;C)
Make rs119103258(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64746796
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs119103258
ebirs119103258
HLIrs119103258
Exacrs119103258
Varsomers119103258
Maprs119103258
PheGenIrs119103258
hapmaprs119103258
1000 genomesrs119103258
hgdprs119103258
ensemblrs119103258
gopubmedrs119103258
geneviewrs119103258
scholarrs119103258
googlers119103258
pharmgkbrs119103258
gwascentralrs119103258
openSNPrs119103258
23andMers119103258
23andMe allrs119103258
SNP Nexus

SNPshotrs119103258
SNPdbers119103258
MSV3drs119103258
GWAS Ctlgrs119103258
Max Magnitude0
OMIM608455
Desc
Variant0015
Relatedalso
ClinVar
Risk rs119103258(A,C;A,C)
Alt rs119103258(A,C;A,C)
Reference rs119103258(T;T)
Significance Pathogenic
Disease Glycogen storage disease not provided
Variation info
Gene PYGM RASGRP2
CLNDBN Glycogen storage disease, type V not provided
Reversed 1
HGVS NC_000011.9:g.64514268A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002402.5, RCV000081312.3,