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rs886044183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome19
Position46756420
GeneFKRP
is asnp
is mentioned by
dbSNPrs886044183
dbSNP (old)rs886044183
ClinGenrs886044183
ebirs886044183
HLIrs886044183
Exacrs886044183
Gnomadrs886044183
Varsomers886044183
LitVarrs886044183
Maprs886044183
PheGenIrs886044183
Biobankrs886044183
1000 genomesrs886044183
hgdprs886044183
ensemblrs886044183
gopubmedrs886044183
geneviewrs886044183
scholarrs886044183
googlers886044183
pharmgkbrs886044183
gwascentralrs886044183
openSNPrs886044183
23andMers886044183
23andMe allrs886044183
SNPshotrs886044183
SNPdbers886044183
MSV3drs886044183
GWAS Ctlgrs886044183
Max Magnitude0
ClinVar
Risk rs886044183(T;T)
Alt rs886044183(T;T)
Reference Rs886044183(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy Walker-Warburg congenital muscular dystrophy
Variation info
Gene FKRP
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Walker-Warburg congenital muscular dystrophy
Reversed 0
HGVS NC_000019.9:g.47259677G>T
CLNSRC
CLNACC RCV000282481.1, RCV000461986.1,