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rs587777817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777817(-;-)
Make rs587777817(-;G)
Make rs587777817(G;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position131522972
GenePOMT1
is asnp
is mentioned by
dbSNPrs587777817
ebirs587777817
HLIrs587777817
Exacrs587777817
Varsomers587777817
Maprs587777817
PheGenIrs587777817
hapmaprs587777817
1000 genomesrs587777817
hgdprs587777817
ensemblrs587777817
gopubmedrs587777817
geneviewrs587777817
scholarrs587777817
googlers587777817
pharmgkbrs587777817
gwascentralrs587777817
openSNPrs587777817
23andMers587777817
23andMe allrs587777817
SNP Nexus

SNPshotrs587777817
SNPdbers587777817
MSV3drs587777817
GWAS Ctlgrs587777817
Max Magnitude0
ClinVar
Risk rs587777817(G;G)
Alt rs587777817(G;G)
Reference rs587777817(;)
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.134398359dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003396.6,