Have questions? Visit https://www.reddit.com/r/SNPedia

rs190285831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs190285831(C;G)
Make rs190285831(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77288777
GenePOMT2
is asnp
is mentioned by
dbSNPrs190285831
ebirs190285831
HLIrs190285831
Exacrs190285831
Varsomers190285831
Maprs190285831
PheGenIrs190285831
hapmaprs190285831
1000 genomesrs190285831
hgdprs190285831
ensemblrs190285831
gopubmedrs190285831
geneviewrs190285831
scholarrs190285831
googlers190285831
pharmgkbrs190285831
gwascentralrs190285831
openSNPrs190285831
23andMers190285831
23andMe allrs190285831
SNP Nexus

SNPshotrs190285831
SNPdbers190285831
MSV3drs190285831
GWAS Ctlgrs190285831
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs190285831(G;G)
Alt rs190285831(G;G)
Reference rs190285831(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies not provided
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 not provided
Reversed 0
HGVS NC_000014.8:g.77755120C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003381.3, RCV000081563.4,