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rs267606993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606993(A;C)
Make rs267606993(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position64759898
GenePYGM
is asnp
is mentioned by
dbSNPrs267606993
ebirs267606993
HLIrs267606993
Exacrs267606993
Varsomers267606993
Maprs267606993
PheGenIrs267606993
hapmaprs267606993
1000 genomesrs267606993
hgdprs267606993
ensemblrs267606993
gopubmedrs267606993
geneviewrs267606993
scholarrs267606993
googlers267606993
pharmgkbrs267606993
gwascentralrs267606993
openSNPrs267606993
23andMers267606993
23andMe allrs267606993
SNP Nexus

SNPshotrs267606993
SNPdbers267606993
MSV3drs267606993
GWAS Ctlgrs267606993
Max Magnitude0
ClinVar
Risk rs267606993(C,G;C,G)
Alt rs267606993(C,G;C,G)
Reference rs267606993(A;A)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64527370T>C; NC_000011.9:g.64527370T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002399.3, RCV000144425.4,