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rs75559353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs75559353(C;T)
Make rs75559353(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96809338
GeneCNNM4
is asnp
is mentioned by
dbSNPrs75559353
ebirs75559353
HLIrs75559353
Exacrs75559353
Varsomers75559353
Maprs75559353
PheGenIrs75559353
hapmaprs75559353
1000 genomesrs75559353
hgdprs75559353
ensemblrs75559353
gopubmedrs75559353
geneviewrs75559353
scholarrs75559353
googlers75559353
pharmgkbrs75559353
gwascentralrs75559353
openSNPrs75559353
23andMers75559353
23andMe allrs75559353
SNP Nexus

SNPshotrs75559353
SNPdbers75559353
MSV3drs75559353
GWAS Ctlgrs75559353
Max Magnitude0
OMIM607805
Desc
Variant0006
Relatedalso
ClinVar
Risk rs75559353(T;T)
Alt rs75559353(T;T)
Reference rs75559353(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy amelogenesis imperfecta
Variation info
Gene CNNM4
CLNDBN Cone-rod dystrophy amelogenesis imperfecta
Reversed 0
HGVS NC_000002.11:g.97475075C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002986.2,


[PMID 19200525OA-icon.png] Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.