rs62642560
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs62642560(-;-) |
Make rs62642560(-;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94051669 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs62642560 |
dbSNP (classic) | rs62642560 |
ClinGen | rs62642560 |
ebi | rs62642560 |
HLI | rs62642560 |
Exac | rs62642560 |
Gnomad | rs62642560 |
Varsome | rs62642560 |
LitVar | rs62642560 |
Map | rs62642560 |
PheGenI | rs62642560 |
Biobank | rs62642560 |
1000 genomes | rs62642560 |
hgdp | rs62642560 |
ensembl | rs62642560 |
geneview | rs62642560 |
scholar | rs62642560 |
rs62642560 | |
pharmgkb | rs62642560 |
gwascentral | rs62642560 |
openSNP | rs62642560 |
23andMe | rs62642560 |
SNPshot | rs62642560 |
SNPdbe | rs62642560 |
MSV3d | rs62642560 |
GWAS Ctlg | rs62642560 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62642560(-;-) |
Alt | rs62642560(-;-) |
Reference | Rs62642560(CT;CT) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 3 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Cone-rod dystrophy 3 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94517225_94517226delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008360.3, RCV000085495.1, |