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rs587777818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
Make rs587777818(-;-)
Make rs587777818(-;CCT)
ReferenceGRCh38 38.1/142
Chromosome9
Position131515444
GenePOMT1
is asnp
is mentioned by
dbSNPrs587777818
ebirs587777818
HLIrs587777818
Exacrs587777818
Varsomers587777818
Maprs587777818
PheGenIrs587777818
hapmaprs587777818
1000 genomesrs587777818
hgdprs587777818
ensemblrs587777818
gopubmedrs587777818
geneviewrs587777818
scholarrs587777818
googlers587777818
pharmgkbrs587777818
gwascentralrs587777818
openSNPrs587777818
23andMers587777818
23andMe allrs587777818
SNP Nexus

SNPshotrs587777818
SNPdbers587777818
MSV3drs587777818
GWAS Ctlgrs587777818
Max Magnitude0
ClinVar
Risk rs587777818(;)
Alt rs587777818(;)
Reference rs587777818(CCT;CCT)
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.134390831_134390833delCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003397.4,