rs62638180
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs62638180(-;-) |
Make rs62638180(-;CTTTA) |
Make rs62638180(CTTTA;CTTTA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 88071819 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs62638180 |
dbSNP (classic) | rs62638180 |
ClinGen | rs62638180 |
ebi | rs62638180 |
HLI | rs62638180 |
Exac | rs62638180 |
Gnomad | rs62638180 |
Varsome | rs62638180 |
LitVar | rs62638180 |
Map | rs62638180 |
PheGenI | rs62638180 |
Biobank | rs62638180 |
1000 genomes | rs62638180 |
hgdp | rs62638180 |
ensembl | rs62638180 |
geneview | rs62638180 |
scholar | rs62638180 |
rs62638180 | |
pharmgkb | rs62638180 |
gwascentral | rs62638180 |
openSNP | rs62638180 |
23andMe | rs62638180 |
SNPshot | rs62638180 |
SNPdbe | rs62638180 |
MSV3d | rs62638180 |
GWAS Ctlg | rs62638180 |
Max Magnitude | 0 |
aka c.5813_5817delCTTTA (p.Thr1938Asnfs)
Listed in ClinVar but without known significance; listed in the CEP290 database as a truncating deletion, presumably leading to a CEP290-gene related recessively inherited disease.