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rs119463991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119463991(C;T)
Make rs119463991(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position105601325
GeneFKTN
is asnp
is mentioned by
dbSNPrs119463991
ebirs119463991
HLIrs119463991
Exacrs119463991
Varsomers119463991
Maprs119463991
PheGenIrs119463991
hapmaprs119463991
1000 genomesrs119463991
hgdprs119463991
ensemblrs119463991
gopubmedrs119463991
geneviewrs119463991
scholarrs119463991
googlers119463991
pharmgkbrs119463991
gwascentralrs119463991
openSNPrs119463991
23andMers119463991
23andMe allrs119463991
SNP Nexus

SNPshotrs119463991
SNPdbers119463991
MSV3drs119463991
GWAS Ctlgrs119463991
Max Magnitude0
OMIM607440
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119463991(T;T)
Alt rs119463991(T;T)
Reference rs119463991(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.108363606C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003360.3,