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rs587777813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs587777813(-;-)
Make rs587777813(-;AT)
Make rs587777813(AT;AT)
ReferenceGRCh38 38.1/142
Chromosome9
Position105601166
GeneFKTN
is asnp
is mentioned by
dbSNPrs587777813
ebirs587777813
HLIrs587777813
Exacrs587777813
Varsomers587777813
Maprs587777813
PheGenIrs587777813
hapmaprs587777813
1000 genomesrs587777813
hgdprs587777813
ensemblrs587777813
gopubmedrs587777813
geneviewrs587777813
scholarrs587777813
googlers587777813
pharmgkbrs587777813
gwascentralrs587777813
openSNPrs587777813
23andMers587777813
23andMe allrs587777813
SNP Nexus

SNPshotrs587777813
SNPdbers587777813
MSV3drs587777813
GWAS Ctlgrs587777813
Max Magnitude0
ClinVar
Risk rs587777813(;)
Alt rs587777813(;)
Reference rs587777813(TA;TA)
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.108363447_108363448delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003354.3,