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rs119462987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119462987(A;A)
Make rs119462987(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131522160
GenePOMT1
is asnp
is mentioned by
dbSNPrs119462987
ebirs119462987
HLIrs119462987
Exacrs119462987
Varsomers119462987
Maprs119462987
PheGenIrs119462987
hapmaprs119462987
1000 genomesrs119462987
hgdprs119462987
ensemblrs119462987
gopubmedrs119462987
geneviewrs119462987
scholarrs119462987
googlers119462987
pharmgkbrs119462987
gwascentralrs119462987
openSNPrs119462987
23andMers119462987
23andMe allrs119462987
SNP Nexus

SNPshotrs119462987
SNPdbers119462987
MSV3drs119462987
GWAS Ctlgrs119462987
Max Magnitude0
OMIM607423
Desc
Variant0013
Relatedalso
ClinVar
Risk rs119462987(A;A)
Alt rs119462987(A;A)
Reference rs119462987(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.134397547G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003406.4,