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rs397514501

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Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514501(A;G)
Make rs397514501(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position131508913
GenePOMT1
is asnp
is mentioned by
dbSNPrs397514501
ebirs397514501
HLIrs397514501
Exacrs397514501
Varsomers397514501
Maprs397514501
PheGenIrs397514501
hapmaprs397514501
1000 genomesrs397514501
hgdprs397514501
ensemblrs397514501
gopubmedrs397514501
geneviewrs397514501
scholarrs397514501
googlers397514501
pharmgkbrs397514501
gwascentralrs397514501
openSNPrs397514501
23andMers397514501
23andMe allrs397514501
SNP Nexus

SNPshotrs397514501
SNPdbers397514501
MSV3drs397514501
GWAS Ctlgrs397514501
Max Magnitude0
ClinVar
Risk rs397514501(G;G)
Alt rs397514501(G;G)
Reference rs397514501(A;A)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene POMT1
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Reversed 0
HGVS NC_000009.11:g.134384300A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032629.2,