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rs119464997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119464997(A;A)
Make rs119464997(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position105604354
GeneFKTN
is asnp
is mentioned by
dbSNPrs119464997
ebirs119464997
HLIrs119464997
Exacrs119464997
Varsomers119464997
Maprs119464997
PheGenIrs119464997
hapmaprs119464997
1000 genomesrs119464997
hgdprs119464997
ensemblrs119464997
gopubmedrs119464997
geneviewrs119464997
scholarrs119464997
googlers119464997
pharmgkbrs119464997
gwascentralrs119464997
openSNPrs119464997
23andMers119464997
23andMe allrs119464997
SNP Nexus

SNPshotrs119464997
SNPdbers119464997
MSV3drs119464997
GWAS Ctlgrs119464997
Max Magnitude0
OMIM607440
Desc
Variant0016
Relatedalso
ClinVar
Risk rs119464997(A;A)
Alt rs119464997(A;A)
Reference rs119464997(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.108366635C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003369.3,