Have questions? Visit https://www.reddit.com/r/SNPedia

rs886044083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome19
Position46756717
GeneFKRP
is asnp
is mentioned by
dbSNPrs886044083
dbSNP (classic)rs886044083
ClinGenrs886044083
ebirs886044083
HLIrs886044083
Exacrs886044083
Gnomadrs886044083
Varsomers886044083
LitVarrs886044083
Maprs886044083
PheGenIrs886044083
Biobankrs886044083
1000 genomesrs886044083
hgdprs886044083
ensemblrs886044083
geneviewrs886044083
scholarrs886044083
googlers886044083
pharmgkbrs886044083
gwascentralrs886044083
openSNPrs886044083
23andMers886044083
SNPshotrs886044083
SNPdbers886044083
MSV3drs886044083
GWAS Ctlgrs886044083
Max Magnitude0
ClinVar
Risk rs886044083(-;-)
Alt rs886044083(-;-)
Reference Rs886044083(C;C)
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.47259974delC
CLNSRC
CLNACC RCV000376382.1,