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rs727502869

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502869(C;T)
Make rs727502869(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position149026850
GeneGYG1
is asnp
is mentioned by
dbSNPrs727502869
ebirs727502869
HLIrs727502869
Exacrs727502869
Varsomers727502869
Maprs727502869
PheGenIrs727502869
hapmaprs727502869
1000 genomesrs727502869
hgdprs727502869
ensemblrs727502869
gopubmedrs727502869
geneviewrs727502869
scholarrs727502869
googlers727502869
pharmgkbrs727502869
gwascentralrs727502869
openSNPrs727502869
23andMers727502869
23andMe allrs727502869
SNP Nexus

SNPshotrs727502869
SNPdbers727502869
MSV3drs727502869
GWAS Ctlgrs727502869
Max Magnitude0
ClinVar
Risk rs727502869(T;T)
Alt rs727502869(T;T)
Reference rs727502869(C;C)
Significance Pathogenic
Disease Polyglucosan body myopathy 2
Variation info
Gene GYG1
CLNDBN Polyglucosan body myopathy 2
Reversed 0
HGVS NC_000003.11:g.148744637C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000150099.3,