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rs746763506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746763506(C;T)
Make rs746763506(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position105604452
GeneFKTN
is asnp
is mentioned by
dbSNPrs746763506
dbSNP (classic)rs746763506
ClinGenrs746763506
ebirs746763506
HLIrs746763506
Exacrs746763506
Gnomadrs746763506
Varsomers746763506
LitVarrs746763506
Maprs746763506
PheGenIrs746763506
Biobankrs746763506
1000 genomesrs746763506
hgdprs746763506
ensemblrs746763506
geneviewrs746763506
scholarrs746763506
googlers746763506
pharmgkbrs746763506
gwascentralrs746763506
openSNPrs746763506
23andMers746763506
SNPshotrs746763506
SNPdbers746763506
MSV3drs746763506
GWAS Ctlgrs746763506
Max Magnitude0
ClinVar
Risk rs746763506(T;T)
Alt rs746763506(T;T)
Reference Rs746763506(C;C)
Significance Pathogenic
Disease Walker-Warburg congenital muscular dystrophy not provided Congenital muscular dystrophy-dystroglycanopathy without mental retardation Fukuyama congenital muscular dystrophy Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKTN
CLNDBN Walker-Warburg congenital muscular dystrophy not provided Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 Fukuyama congenital muscular dystrophy Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Reversed 0
HGVS NC_000009.11:g.108366733C>T
CLNSRC
CLNACC RCV000234557.1, RCV000255310.1, RCV000490403.1,