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rs119462986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119462986(C;C)
Make rs119462986(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131521351
GenePOMT1
is asnp
is mentioned by
dbSNPrs119462986
ebirs119462986
HLIrs119462986
Exacrs119462986
Varsomers119462986
Maprs119462986
PheGenIrs119462986
hapmaprs119462986
1000 genomesrs119462986
hgdprs119462986
ensemblrs119462986
gopubmedrs119462986
geneviewrs119462986
scholarrs119462986
googlers119462986
pharmgkbrs119462986
gwascentralrs119462986
openSNPrs119462986
23andMers119462986
23andMe allrs119462986
SNP Nexus

SNPshotrs119462986
SNPdbers119462986
MSV3drs119462986
GWAS Ctlgrs119462986
Max Magnitude0
OMIM607423
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119462986(C;C)
Alt rs119462986(C;C)
Reference rs119462986(G;G)
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.134396738G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003402.3, RCV000081485.3, RCV000175324.1,