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rs200198778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200198778(C;C)
Make rs200198778(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77278764
GenePOMT2
is asnp
is mentioned by
dbSNPrs200198778
ebirs200198778
HLIrs200198778
Exacrs200198778
Varsomers200198778
Maprs200198778
PheGenIrs200198778
hapmaprs200198778
1000 genomesrs200198778
hgdprs200198778
ensemblrs200198778
gopubmedrs200198778
geneviewrs200198778
scholarrs200198778
googlers200198778
pharmgkbrs200198778
gwascentralrs200198778
openSNPrs200198778
23andMers200198778
23andMe allrs200198778
SNP Nexus

SNPshotrs200198778
SNPdbers200198778
MSV3drs200198778
GWAS Ctlgrs200198778
Max Magnitude0
ClinVar
Risk rs200198778(C;C)
Alt rs200198778(C;C)
Reference rs200198778(T;T)
Significance Other
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies not provided Muscular dystrophy
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 not provided Muscular dystrophy
Reversed 0
HGVS NC_000014.8:g.77745107T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003376.4, RCV000003377.3, RCV000081569.5, RCV000193219.1,