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rs119462982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119462982(C;C)
Make rs119462982(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131509801
GenePOMT1
is asnp
is mentioned by
dbSNPrs119462982
dbSNP (old)rs119462982
ClinGenrs119462982
ebirs119462982
HLIrs119462982
Exacrs119462982
Varsomers119462982
Maprs119462982
PheGenIrs119462982
Biobankrs119462982
1000 genomesrs119462982
hgdprs119462982
ensemblrs119462982
gopubmedrs119462982
geneviewrs119462982
scholarrs119462982
googlers119462982
pharmgkbrs119462982
gwascentralrs119462982
openSNPrs119462982
23andMers119462982
23andMe allrs119462982
SNP Nexus

SNPshotrs119462982
SNPdbers119462982
MSV3drs119462982
GWAS Ctlgrs119462982
Max Magnitude0
OMIM607423
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119462982(C;C)
Alt rs119462982(C;C)
Reference Rs119462982(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy with mental retardation Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134385188G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003399.3, RCV000179928.1, RCV000179929.1,