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rs587777748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777748(-;-)
Make rs587777748(-;T)
Make rs587777748(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position105604299
GeneFKTN
is asnp
is mentioned by
dbSNPrs587777748
ebirs587777748
HLIrs587777748
Exacrs587777748
Varsomers587777748
Maprs587777748
PheGenIrs587777748
hapmaprs587777748
1000 genomesrs587777748
hgdprs587777748
ensemblrs587777748
gopubmedrs587777748
geneviewrs587777748
scholarrs587777748
googlers587777748
pharmgkbrs587777748
gwascentralrs587777748
openSNPrs587777748
23andMers587777748
23andMe allrs587777748
SNP Nexus

SNPshotrs587777748
SNPdbers587777748
MSV3drs587777748
GWAS Ctlgrs587777748
Max Magnitude0
ClinVar
Risk rs587777748(T;T)
Alt rs587777748(T;T)
Reference rs587777748(;)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene FKTN
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
Reversed 0
HGVS NC_000009.11:g.108366580dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003359.4,