rs75267011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs75267011(A;A) |
Make rs75267011(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 96761706 |
Gene | CNNM4 |
is a | snp |
is | mentioned by |
dbSNP | rs75267011 |
dbSNP (classic) | rs75267011 |
ClinGen | rs75267011 |
ebi | rs75267011 |
HLI | rs75267011 |
Exac | rs75267011 |
Gnomad | rs75267011 |
Varsome | rs75267011 |
LitVar | rs75267011 |
Map | rs75267011 |
PheGenI | rs75267011 |
Biobank | rs75267011 |
1000 genomes | rs75267011 |
hgdp | rs75267011 |
ensembl | rs75267011 |
geneview | rs75267011 |
scholar | rs75267011 |
rs75267011 | |
pharmgkb | rs75267011 |
gwascentral | rs75267011 |
openSNP | rs75267011 |
23andMe | rs75267011 |
SNPshot | rs75267011 |
SNPdbe | rs75267011 |
MSV3d | rs75267011 |
GWAS Ctlg | rs75267011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75267011(A;A) |
Alt | rs75267011(A;A) |
Reference | Rs75267011(G;G) |
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.97427443G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002982.2, |