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rs794727208

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727208(C;T)
Make rs794727208(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position131521445
GenePOMT1
is asnp
is mentioned by
dbSNPrs794727208
ebirs794727208
HLIrs794727208
Exacrs794727208
Varsomers794727208
Maprs794727208
PheGenIrs794727208
hapmaprs794727208
1000 genomesrs794727208
hgdprs794727208
ensemblrs794727208
gopubmedrs794727208
geneviewrs794727208
scholarrs794727208
googlers794727208
pharmgkbrs794727208
gwascentralrs794727208
openSNPrs794727208
23andMers794727208
23andMe allrs794727208
SNP Nexus

SNPshotrs794727208
SNPdbers794727208
MSV3drs794727208
GWAS Ctlgrs794727208
Max Magnitude0
ClinVar
Risk rs794727208(T;T)
Alt rs794727208(T;T)
Reference rs794727208(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene POMT1
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed 0
HGVS NC_000009.11:g.134396832C>T
CLNSRC
CLNACC RCV000175325.1, RCV000175326.1,