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rs119462984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119462984(C;C)
Make rs119462984(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131520175
GenePOMT1
is asnp
is mentioned by
dbSNPrs119462984
ebirs119462984
HLIrs119462984
Exacrs119462984
Varsomers119462984
Maprs119462984
PheGenIrs119462984
hapmaprs119462984
1000 genomesrs119462984
hgdprs119462984
ensemblrs119462984
gopubmedrs119462984
geneviewrs119462984
scholarrs119462984
googlers119462984
pharmgkbrs119462984
gwascentralrs119462984
openSNPrs119462984
23andMers119462984
23andMe allrs119462984
SNP Nexus

SNPshotrs119462984
SNPdbers119462984
MSV3drs119462984
GWAS Ctlgrs119462984
Max Magnitude0
OMIM607423
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119462984(C;C)
Alt rs119462984(C;C)
Reference rs119462984(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation info
Gene POMT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Reversed 0
HGVS NC_000009.11:g.134395562G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003398.3,