rs62637016
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
(I;I) | 0 |
Make rs62637016(-;-) |
Make rs62637016(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 6425604 |
Gene | AIPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs62637016 |
dbSNP (classic) | rs62637016 |
ClinGen | rs62637016 |
ebi | rs62637016 |
HLI | rs62637016 |
Exac | rs62637016 |
Gnomad | rs62637016 |
Varsome | rs62637016 |
LitVar | rs62637016 |
Map | rs62637016 |
PheGenI | rs62637016 |
Biobank | rs62637016 |
1000 genomes | rs62637016 |
hgdp | rs62637016 |
ensembl | rs62637016 |
geneview | rs62637016 |
scholar | rs62637016 |
rs62637016 | |
pharmgkb | rs62637016 |
gwascentral | rs62637016 |
openSNP | rs62637016 |
23andMe | rs62637016 |
SNPshot | rs62637016 |
SNPdbe | rs62637016 |
MSV3d | rs62637016 |
GWAS Ctlg | rs62637016 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62637016(-;-) |
Alt | rs62637016(-;-) |
Reference | Rs62637016(AG;AG) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 4 not provided |
Variation | info |
Gene | AIPL1 |
CLNDBN | Leber congenital amaurosis 4 not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.6328924_6328925delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005907.2, RCV000086209.1, |