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rs1057517001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517001(A;A)
Make rs1057517001(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64746948
GenePYGM, RASGRP2
is asnp
is mentioned by
dbSNPrs1057517001
dbSNP (classic)rs1057517001
ClinGenrs1057517001
ebirs1057517001
HLIrs1057517001
Exacrs1057517001
Gnomadrs1057517001
Varsomers1057517001
LitVarrs1057517001
Maprs1057517001
PheGenIrs1057517001
Biobankrs1057517001
1000 genomesrs1057517001
hgdprs1057517001
ensemblrs1057517001
geneviewrs1057517001
scholarrs1057517001
googlers1057517001
pharmgkbrs1057517001
gwascentralrs1057517001
openSNPrs1057517001
23andMers1057517001
23andMe allrs1057517001
SNPshotrs1057517001
SNPdbers1057517001
MSV3drs1057517001
GWAS Ctlgrs1057517001
Max Magnitude0
ClinVar
Risk rs1057517001(A;A)
Alt rs1057517001(A;A)
Reference Rs1057517001(C;C)
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.64514420G>T
CLNSRC
CLNACC RCV000409053.1,