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rs119463990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119463990(C;T)
Make rs119463990(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position105596631
GeneFKTN
is asnp
is mentioned by
dbSNPrs119463990
ebirs119463990
HLIrs119463990
Exacrs119463990
Varsomers119463990
Maprs119463990
PheGenIrs119463990
hapmaprs119463990
1000 genomesrs119463990
hgdprs119463990
ensemblrs119463990
gopubmedrs119463990
geneviewrs119463990
scholarrs119463990
googlers119463990
pharmgkbrs119463990
gwascentralrs119463990
openSNPrs119463990
23andMers119463990
23andMe allrs119463990
SNP Nexus

SNPshotrs119463990
SNPdbers119463990
MSV3drs119463990
GWAS Ctlgrs119463990
Max Magnitude0
OMIM607440
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119463990(T;T)
Alt rs119463990(T;T)
Reference rs119463990(C;C)
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.108358912C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003353.3,