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rs398124245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398124245(-;-)
Make rs398124245(-;G)
Make rs398124245(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131523029
GenePOMT1
is asnp
is mentioned by
dbSNPrs398124245
ebirs398124245
HLIrs398124245
Exacrs398124245
Varsomers398124245
Maprs398124245
PheGenIrs398124245
hapmaprs398124245
1000 genomesrs398124245
hgdprs398124245
ensemblrs398124245
gopubmedrs398124245
geneviewrs398124245
scholarrs398124245
googlers398124245
pharmgkbrs398124245
gwascentralrs398124245
openSNPrs398124245
23andMers398124245
23andMe allrs398124245
SNP Nexus

SNPshotrs398124245
SNPdbers398124245
MSV3drs398124245
GWAS Ctlgrs398124245
Max Magnitude0
ClinVar
Risk rs398124245(G;G)
Alt rs398124245(G;G)
Reference rs398124245(;)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) not provided Congenital muscular dystrophy
Variation info
Gene POMT1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 not provided Congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.134398416dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003411.5, RCV000081487.3, RCV000150015.1,