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rs886044134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome19
Position46756591
GeneFKRP
is asnp
is mentioned by
dbSNPrs886044134
dbSNP (classic)rs886044134
ClinGenrs886044134
ebirs886044134
HLIrs886044134
Exacrs886044134
Gnomadrs886044134
Varsomers886044134
LitVarrs886044134
Maprs886044134
PheGenIrs886044134
Biobankrs886044134
1000 genomesrs886044134
hgdprs886044134
ensemblrs886044134
geneviewrs886044134
scholarrs886044134
googlers886044134
pharmgkbrs886044134
gwascentralrs886044134
openSNPrs886044134
23andMers886044134
SNPshotrs886044134
SNPdbers886044134
MSV3drs886044134
GWAS Ctlgrs886044134
Max Magnitude0
ClinVar
Risk rs886044134(-;-)
Alt rs886044134(-;-)
Reference Rs886044134(G;G)
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.47259848delG
CLNSRC
CLNACC RCV000363445.1,