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rs119463992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119463992(A;A)
Make rs119463992(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position105617968
GeneFKTN
is asnp
is mentioned by
dbSNPrs119463992
ebirs119463992
HLIrs119463992
Exacrs119463992
Varsomers119463992
Maprs119463992
PheGenIrs119463992
hapmaprs119463992
1000 genomesrs119463992
hgdprs119463992
ensemblrs119463992
gopubmedrs119463992
geneviewrs119463992
scholarrs119463992
googlers119463992
pharmgkbrs119463992
gwascentralrs119463992
openSNPrs119463992
23andMers119463992
23andMe allrs119463992
SNP Nexus

SNPshotrs119463992
SNPdbers119463992
MSV3drs119463992
GWAS Ctlgrs119463992
Max Magnitude0
OMIM607440
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119463992(A;A)
Alt rs119463992(A;A)
Reference rs119463992(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy without mental retardation not provided
Variation info
Gene FKTN
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 not provided
Reversed 0
HGVS NC_000009.11:g.108380249G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003362.3, RCV000003363.3, RCV000180551.1,