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rs397515400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515400(C;T)
Make rs397515400(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position131513331
GenePOMT1
is asnp
is mentioned by
dbSNPrs397515400
ebirs397515400
HLIrs397515400
Exacrs397515400
Varsomers397515400
Maprs397515400
PheGenIrs397515400
hapmaprs397515400
1000 genomesrs397515400
hgdprs397515400
ensemblrs397515400
gopubmedrs397515400
geneviewrs397515400
scholarrs397515400
googlers397515400
pharmgkbrs397515400
gwascentralrs397515400
openSNPrs397515400
23andMers397515400
23andMe allrs397515400
SNP Nexus

SNPshotrs397515400
SNPdbers397515400
MSV3drs397515400
GWAS Ctlgrs397515400
Max Magnitude0
ClinVar
Risk rs397515400(T;T)
Alt rs397515400(T;T)
Reference rs397515400(C;C)
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.134388718C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032630.3,