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rs587780422

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780422(A;A)
Make rs587780422(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position77298684
GenePOMT2
is asnp
is mentioned by
dbSNPrs587780422
ebirs587780422
HLIrs587780422
Exacrs587780422
Varsomers587780422
Maprs587780422
PheGenIrs587780422
hapmaprs587780422
1000 genomesrs587780422
hgdprs587780422
ensemblrs587780422
gopubmedrs587780422
geneviewrs587780422
scholarrs587780422
googlers587780422
pharmgkbrs587780422
gwascentralrs587780422
openSNPrs587780422
23andMers587780422
23andMe allrs587780422
SNP Nexus

SNPshotrs587780422
SNPdbers587780422
MSV3drs587780422
GWAS Ctlgrs587780422
Max Magnitude0
ClinVar
Risk rs587780422(A;A)
Alt rs587780422(A;A)
Reference rs587780422(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene POMT2
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Reversed 1
HGVS NC_000014.8:g.77765027C>T
CLNSRC
CLNACC RCV000118039.1,