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rs74552543

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Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74552543(C;C)
Make rs74552543(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96761970
GeneCNNM4
is asnp
is mentioned by
dbSNPrs74552543
ebirs74552543
HLIrs74552543
Exacrs74552543
Varsomers74552543
Maprs74552543
PheGenIrs74552543
hapmaprs74552543
1000 genomesrs74552543
hgdprs74552543
ensemblrs74552543
gopubmedrs74552543
geneviewrs74552543
scholarrs74552543
googlers74552543
pharmgkbrs74552543
gwascentralrs74552543
openSNPrs74552543
23andMers74552543
23andMe allrs74552543
SNP Nexus

SNPshotrs74552543
SNPdbers74552543
MSV3drs74552543
GWAS Ctlgrs74552543
Max Magnitude0
OMIM607805
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74552543(C;C)
Alt rs74552543(C;C)
Reference rs74552543(T;T)
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.97427707T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002983.2,


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