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rs587777819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587777819(-;-)
Make rs587777819(-;TC)
Make rs587777819(TC;TC)
ReferenceGRCh38 38.1/142
Chromosome9
Position131523041
GenePOMT1
is asnp
is mentioned by
dbSNPrs587777819
ebirs587777819
HLIrs587777819
Exacrs587777819
Varsomers587777819
Maprs587777819
PheGenIrs587777819
hapmaprs587777819
1000 genomesrs587777819
hgdprs587777819
ensemblrs587777819
gopubmedrs587777819
geneviewrs587777819
scholarrs587777819
googlers587777819
pharmgkbrs587777819
gwascentralrs587777819
openSNPrs587777819
23andMers587777819
23andMe allrs587777819
SNP Nexus

SNPshotrs587777819
SNPdbers587777819
MSV3drs587777819
GWAS Ctlgrs587777819
Max Magnitude0
ClinVar
Risk rs587777819(;)
Alt rs587777819(;)
Reference rs587777819(CT;CT)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) Congenital muscular dystrophy
Variation info
Gene POMT1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.134398428_134398429delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003408.4, RCV000150016.1,