rs75559353
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs75559353(C;T) |
Make rs75559353(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 96809338 |
Gene | CNNM4 |
is a | snp |
is | mentioned by |
dbSNP | rs75559353 |
dbSNP (classic) | rs75559353 |
ClinGen | rs75559353 |
ebi | rs75559353 |
HLI | rs75559353 |
Exac | rs75559353 |
Gnomad | rs75559353 |
Varsome | rs75559353 |
LitVar | rs75559353 |
Map | rs75559353 |
PheGenI | rs75559353 |
Biobank | rs75559353 |
1000 genomes | rs75559353 |
hgdp | rs75559353 |
ensembl | rs75559353 |
geneview | rs75559353 |
scholar | rs75559353 |
rs75559353 | |
pharmgkb | rs75559353 |
gwascentral | rs75559353 |
openSNP | rs75559353 |
23andMe | rs75559353 |
SNPshot | rs75559353 |
SNPdbe | rs75559353 |
MSV3d | rs75559353 |
GWAS Ctlg | rs75559353 |
Max Magnitude | 0 |
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 19200525] Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.