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rs1057516529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516529(G;T)
Make rs1057516529(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64746660
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs1057516529
dbSNP (old)rs1057516529
ClinGenrs1057516529
ebirs1057516529
HLIrs1057516529
Exacrs1057516529
Gnomadrs1057516529
Varsomers1057516529
Maprs1057516529
PheGenIrs1057516529
Biobankrs1057516529
1000 genomesrs1057516529
hgdprs1057516529
ensemblrs1057516529
gopubmedrs1057516529
geneviewrs1057516529
scholarrs1057516529
googlers1057516529
pharmgkbrs1057516529
gwascentralrs1057516529
openSNPrs1057516529
23andMers1057516529
23andMe allrs1057516529
SNPshotrs1057516529
SNPdbers1057516529
MSV3drs1057516529
GWAS Ctlgrs1057516529
Max Magnitude0
ClinVar
Risk rs1057516529(T;T)
Alt rs1057516529(T;T)
Reference Rs1057516529(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM RASGRP2
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64514132C>A
CLNSRC
CLNACC RCV000409749.1,