rs397515469
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397515469(C;T) |
Make rs397515469(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 77434499 |
Gene | ADAMTS18 |
is a | snp |
is | mentioned by |
dbSNP | rs397515469 |
dbSNP (classic) | rs397515469 |
ClinGen | rs397515469 |
ebi | rs397515469 |
HLI | rs397515469 |
Exac | rs397515469 |
Gnomad | rs397515469 |
Varsome | rs397515469 |
LitVar | rs397515469 |
Map | rs397515469 |
PheGenI | rs397515469 |
Biobank | rs397515469 |
1000 genomes | rs397515469 |
hgdp | rs397515469 |
ensembl | rs397515469 |
geneview | rs397515469 |
scholar | rs397515469 |
rs397515469 | |
pharmgkb | rs397515469 |
gwascentral | rs397515469 |
openSNP | rs397515469 |
23andMe | rs397515469 |
SNPshot | rs397515469 |
SNPdbe | rs397515469 |
MSV3d | rs397515469 |
GWAS Ctlg | rs397515469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515469(T;T) |
Alt | rs397515469(T;T) |
Reference | Rs397515469(C;C) |
Significance | Pathogenic |
Disease | Microcornea |
Variation | info |
Gene | ADAMTS18 |
CLNDBN | Microcornea, myopic chorioretinal atrophy, and telecanthus |
Reversed | 1 |
HGVS | NC_000016.9:g.77468396G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000056281.2, |