Have questions? Visit https://www.reddit.com/r/SNPedia

rs587780423

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587780423(A;G)
Make rs587780423(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position77299497
GenePOMT2
is asnp
is mentioned by
dbSNPrs587780423
ebirs587780423
HLIrs587780423
Exacrs587780423
Varsomers587780423
Maprs587780423
PheGenIrs587780423
hapmaprs587780423
1000 genomesrs587780423
hgdprs587780423
ensemblrs587780423
gopubmedrs587780423
geneviewrs587780423
scholarrs587780423
googlers587780423
pharmgkbrs587780423
gwascentralrs587780423
openSNPrs587780423
23andMers587780423
23andMe allrs587780423
SNP Nexus

SNPshotrs587780423
SNPdbers587780423
MSV3drs587780423
GWAS Ctlgrs587780423
Max Magnitude0
ClinVar
Risk rs587780423(G;G)
Alt rs587780423(G;G)
Reference rs587780423(A;A)
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.77765840T>C
CLNSRC
CLNACC RCV000118041.1,