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rs772950604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs772950604(-;T)
Make rs772950604(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position46756719
GeneFKRP
is asnp
is mentioned by
dbSNPrs772950604
dbSNP (old)rs772950604
ClinGenrs772950604
ebirs772950604
HLIrs772950604
Exacrs772950604
Gnomadrs772950604
Varsomers772950604
Maprs772950604
PheGenIrs772950604
Biobankrs772950604
1000 genomesrs772950604
hgdprs772950604
ensemblrs772950604
gopubmedrs772950604
geneviewrs772950604
scholarrs772950604
googlers772950604
pharmgkbrs772950604
gwascentralrs772950604
openSNPrs772950604
23andMers772950604
23andMe allrs772950604
SNPshotrs772950604
SNPdbers772950604
MSV3drs772950604
GWAS Ctlgrs772950604
Max Magnitude0
ClinVar
Risk rs772950604(T;T)
Alt rs772950604(T;T)
Reference Rs772950604(-;-)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKRP
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed 0
HGVS NC_000019.9:g.47259976_47259977insT
CLNSRC
CLNACC RCV000382228.1,