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rs587777820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGA;TGA) 0 common in clinvar
Make rs587777820(-;-)
Make rs587777820(-;ATG)
Make rs587777820(ATG;ATG)
ReferenceGRCh38 38.1/142
Chromosome9
Position131507505
GenePOMT1
is asnp
is mentioned by
dbSNPrs587777820
ebirs587777820
HLIrs587777820
Exacrs587777820
Varsomers587777820
Maprs587777820
PheGenIrs587777820
hapmaprs587777820
1000 genomesrs587777820
hgdprs587777820
ensemblrs587777820
gopubmedrs587777820
geneviewrs587777820
scholarrs587777820
googlers587777820
pharmgkbrs587777820
gwascentralrs587777820
openSNPrs587777820
23andMers587777820
23andMe allrs587777820
SNP Nexus

SNPshotrs587777820
SNPdbers587777820
MSV3drs587777820
GWAS Ctlgrs587777820
Max Magnitude0
ClinVar
Risk rs587777820(;)
Alt rs587777820(;)
Reference rs587777820(TGA;TGA)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134382892_134382894delATG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003410.4,