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rs119462983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119462983(A;A)
Make rs119462983(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131506184
GenePOMT1
is asnp
is mentioned by
dbSNPrs119462983
ebirs119462983
HLIrs119462983
Exacrs119462983
Varsomers119462983
Maprs119462983
PheGenIrs119462983
hapmaprs119462983
1000 genomesrs119462983
hgdprs119462983
ensemblrs119462983
gopubmedrs119462983
geneviewrs119462983
scholarrs119462983
googlers119462983
pharmgkbrs119462983
gwascentralrs119462983
openSNPrs119462983
23andMers119462983
23andMe allrs119462983
SNP Nexus

SNPshotrs119462983
SNPdbers119462983
MSV3drs119462983
GWAS Ctlgrs119462983
Max Magnitude0
OMIM607423
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119462983(A;A)
Alt rs119462983(A;A)
Reference rs119462983(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.134381571G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003400.4,