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rs119462985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119462985(C;T)
Make rs119462985(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position131518945
GenePOMT1
is asnp
is mentioned by
dbSNPrs119462985
ebirs119462985
HLIrs119462985
Exacrs119462985
Varsomers119462985
Maprs119462985
PheGenIrs119462985
hapmaprs119462985
1000 genomesrs119462985
hgdprs119462985
ensemblrs119462985
gopubmedrs119462985
geneviewrs119462985
scholarrs119462985
googlers119462985
pharmgkbrs119462985
gwascentralrs119462985
openSNPrs119462985
23andMers119462985
23andMe allrs119462985
SNP Nexus

SNPshotrs119462985
SNPdbers119462985
MSV3drs119462985
GWAS Ctlgrs119462985
Max Magnitude0
OMIM607423
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119462985(G,T;G,T)
Alt rs119462985(G,T;G,T)
Reference rs119462985(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134394332C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003401.3, RCV000153046.2, RCV000174912.1,