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rs587777815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777815(-;-)
Make rs587777815(-;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position77286815
GenePOMT2
is asnp
is mentioned by
dbSNPrs587777815
ebirs587777815
HLIrs587777815
Exacrs587777815
Varsomers587777815
Maprs587777815
PheGenIrs587777815
hapmaprs587777815
1000 genomesrs587777815
hgdprs587777815
ensemblrs587777815
gopubmedrs587777815
geneviewrs587777815
scholarrs587777815
googlers587777815
pharmgkbrs587777815
gwascentralrs587777815
openSNPrs587777815
23andMers587777815
23andMe allrs587777815
SNP Nexus

SNPshotrs587777815
SNPdbers587777815
MSV3drs587777815
GWAS Ctlgrs587777815
Max Magnitude0
ClinVar
Risk rs587777815(;)
Alt rs587777815(;)
Reference rs587777815(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Reversed 0
HGVS NC_000014.8:g.77753158delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003375.3,