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rs80100937

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80100937(C;T)
Make rs80100937(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96799065
GeneCNNM4
is asnp
is mentioned by
dbSNPrs80100937
ebirs80100937
HLIrs80100937
Exacrs80100937
Varsomers80100937
Maprs80100937
PheGenIrs80100937
hapmaprs80100937
1000 genomesrs80100937
hgdprs80100937
ensemblrs80100937
gopubmedrs80100937
geneviewrs80100937
scholarrs80100937
googlers80100937
pharmgkbrs80100937
gwascentralrs80100937
openSNPrs80100937
23andMers80100937
23andMe allrs80100937
SNP Nexus

SNPshotrs80100937
SNPdbers80100937
MSV3drs80100937
GWAS Ctlgrs80100937
Max Magnitude0
OMIM607805
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80100937(T;T)
Alt rs80100937(T;T)
Reference rs80100937(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.97464802C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002984.3,


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