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rs794727190

From SNPedia

Orientationplus
Make rs794727190(-;-)
Make rs794727190(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position131520152
GenePOMT1
is asnp
is mentioned by
dbSNPrs794727190
ebirs794727190
HLIrs794727190
Exacrs794727190
Varsomers794727190
Maprs794727190
PheGenIrs794727190
hapmaprs794727190
1000 genomesrs794727190
hgdprs794727190
ensemblrs794727190
gopubmedrs794727190
geneviewrs794727190
scholarrs794727190
googlers794727190
pharmgkbrs794727190
gwascentralrs794727190
openSNPrs794727190
23andMers794727190
23andMe allrs794727190
SNP Nexus

SNPshotrs794727190
SNPdbers794727190
MSV3drs794727190
GWAS Ctlgrs794727190
Max Magnitude
ClinVar
Risk rs794727190(;)
Alt rs794727190(;)
Reference rs794727190(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.134395539delC
CLNSRC
CLNACC RCV000175198.1,