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rs267606814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606814(C;T)
Make rs267606814(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position105617967
GeneFKTN
is asnp
is mentioned by
dbSNPrs267606814
ebirs267606814
HLIrs267606814
Exacrs267606814
Varsomers267606814
Maprs267606814
PheGenIrs267606814
hapmaprs267606814
1000 genomesrs267606814
hgdprs267606814
ensemblrs267606814
gopubmedrs267606814
geneviewrs267606814
scholarrs267606814
googlers267606814
pharmgkbrs267606814
gwascentralrs267606814
openSNPrs267606814
23andMers267606814
23andMe allrs267606814
SNP Nexus

SNPshotrs267606814
SNPdbers267606814
MSV3drs267606814
GWAS Ctlgrs267606814
Max Magnitude0
ClinVar
Risk rs267606814(T;T)
Alt rs267606814(T;T)
Reference rs267606814(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Fukuyama congenital muscular dystrophy
Variation info
Gene FKTN
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 Fukuyama congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.108380248C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003371.3, RCV000169165.1,