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rs727502870

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502870(A;A)
Make rs727502870(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position149024193
GeneGYG1
is asnp
is mentioned by
dbSNPrs727502870
ebirs727502870
HLIrs727502870
Exacrs727502870
Varsomers727502870
Maprs727502870
PheGenIrs727502870
hapmaprs727502870
1000 genomesrs727502870
hgdprs727502870
ensemblrs727502870
gopubmedrs727502870
geneviewrs727502870
scholarrs727502870
googlers727502870
pharmgkbrs727502870
gwascentralrs727502870
openSNPrs727502870
23andMers727502870
23andMe allrs727502870
SNP Nexus

SNPshotrs727502870
SNPdbers727502870
MSV3drs727502870
GWAS Ctlgrs727502870
Max Magnitude0
ClinVar
Risk rs727502870(A;A)
Alt rs727502870(A;A)
Reference rs727502870(G;G)
Significance Pathogenic
Disease Polyglucosan body myopathy 2
Variation info
Gene GYG1
CLNDBN Polyglucosan body myopathy 2
Reversed 0
HGVS NC_000003.11:g.148741980G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000150101.3,