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rs79424354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79424354(A;A)
Make rs79424354(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position96761598
GeneCNNM4
is asnp
is mentioned by
dbSNPrs79424354
ebirs79424354
HLIrs79424354
Exacrs79424354
Varsomers79424354
Maprs79424354
PheGenIrs79424354
hapmaprs79424354
1000 genomesrs79424354
hgdprs79424354
ensemblrs79424354
gopubmedrs79424354
geneviewrs79424354
scholarrs79424354
googlers79424354
pharmgkbrs79424354
gwascentralrs79424354
openSNPrs79424354
23andMers79424354
23andMe allrs79424354
SNP Nexus

SNPshotrs79424354
SNPdbers79424354
MSV3drs79424354
GWAS Ctlgrs79424354
Max Magnitude0
OMIM607805
Desc
Variant0005
Relatedalso
ClinVar
Risk rs79424354(A;A)
Alt rs79424354(A;A)
Reference rs79424354(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.97427335C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002985.3,


[PMID 3236352OA-icon.png] A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.


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