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rs119462981

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119462981(C;T)
Make rs119462981(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position131510401
GenePOMT1
is asnp
is mentioned by
dbSNPrs119462981
ebirs119462981
HLIrs119462981
Exacrs119462981
Varsomers119462981
Maprs119462981
PheGenIrs119462981
hapmaprs119462981
1000 genomesrs119462981
hgdprs119462981
ensemblrs119462981
gopubmedrs119462981
geneviewrs119462981
scholarrs119462981
googlers119462981
pharmgkbrs119462981
gwascentralrs119462981
openSNPrs119462981
23andMers119462981
23andMe allrs119462981
SNP Nexus

SNPshotrs119462981
SNPdbers119462981
MSV3drs119462981
GWAS Ctlgrs119462981
Max Magnitude0
OMIM607423
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119462981(T;T)
Alt rs119462981(T;T)
Reference rs119462981(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134385788C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003395.5,