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rs143137713

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143137713(C;C)
Make rs143137713(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position148996462
GeneGYG1
is asnp
is mentioned by
dbSNPrs143137713
ebirs143137713
HLIrs143137713
Exacrs143137713
Varsomers143137713
Maprs143137713
PheGenIrs143137713
hapmaprs143137713
1000 genomesrs143137713
hgdprs143137713
ensemblrs143137713
gopubmedrs143137713
geneviewrs143137713
scholarrs143137713
googlers143137713
pharmgkbrs143137713
gwascentralrs143137713
openSNPrs143137713
23andMers143137713
23andMe allrs143137713
SNP Nexus

SNPshotrs143137713
SNPdbers143137713
MSV3drs143137713
GWAS Ctlgrs143137713
Max Magnitude0
ClinVar
Risk rs143137713(C;C)
Alt rs143137713(C;C)
Reference rs143137713(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.148714249G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000150100.3,