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rs533916138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs533916138(C;T)
Make rs533916138(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position77298688
GenePOMT2
is asnp
is mentioned by
dbSNPrs533916138
ebirs533916138
HLIrs533916138
Exacrs533916138
Varsomers533916138
Maprs533916138
PheGenIrs533916138
hapmaprs533916138
1000 genomesrs533916138
hgdprs533916138
ensemblrs533916138
gopubmedrs533916138
geneviewrs533916138
scholarrs533916138
googlers533916138
pharmgkbrs533916138
gwascentralrs533916138
openSNPrs533916138
23andMers533916138
23andMe allrs533916138
SNP Nexus

SNPshotrs533916138
SNPdbers533916138
MSV3drs533916138
GWAS Ctlgrs533916138
Max Magnitude0
ClinVar
Risk rs533916138(T;T)
Alt rs533916138(T;T)
Reference rs533916138(C;C)
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.77765031C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003374.3,