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rs119463996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119463996(C;C)
Make rs119463996(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position105604372
GeneFKTN
is asnp
is mentioned by
dbSNPrs119463996
ebirs119463996
HLIrs119463996
Exacrs119463996
Varsomers119463996
Maprs119463996
PheGenIrs119463996
hapmaprs119463996
1000 genomesrs119463996
hgdprs119463996
ensemblrs119463996
gopubmedrs119463996
geneviewrs119463996
scholarrs119463996
googlers119463996
pharmgkbrs119463996
gwascentralrs119463996
openSNPrs119463996
23andMers119463996
23andMe allrs119463996
SNP Nexus

SNPshotrs119463996
SNPdbers119463996
MSV3drs119463996
GWAS Ctlgrs119463996
Max Magnitude0
OMIM607440
Desc
Variant0015
Relatedalso
ClinVar
Risk rs119463996(C;C)
Alt rs119463996(C;C)
Reference rs119463996(T;T)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKTN
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Reversed 0
HGVS NC_000009.11:g.108366653T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003358.3,