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rs370652040

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370652040(C;C)
Make rs370652040(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position148994280
GeneGYG1
is asnp
is mentioned by
dbSNPrs370652040
ebirs370652040
HLIrs370652040
Exacrs370652040
Varsomers370652040
Maprs370652040
PheGenIrs370652040
hapmaprs370652040
1000 genomesrs370652040
hgdprs370652040
ensemblrs370652040
gopubmedrs370652040
geneviewrs370652040
scholarrs370652040
googlers370652040
pharmgkbrs370652040
gwascentralrs370652040
openSNPrs370652040
23andMers370652040
23andMe allrs370652040
SNP Nexus

SNPshotrs370652040
SNPdbers370652040
MSV3drs370652040
GWAS Ctlgrs370652040
Max Magnitude0
ClinVar
Risk rs370652040(C,T;C,T)
Alt rs370652040(C,T;C,T)
Reference rs370652040(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.148712067G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000150098.3,