rs587777469
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGAG;AGAG) | 0 | common in clinvar |
Make rs587777469(-;-) |
Make rs587777469(-;AGAG) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 75764650 |
Gene | TTLL5 |
is a | snp |
is | mentioned by |
dbSNP | rs587777469 |
dbSNP (classic) | rs587777469 |
ClinGen | rs587777469 |
ebi | rs587777469 |
HLI | rs587777469 |
Exac | rs587777469 |
Gnomad | rs587777469 |
Varsome | rs587777469 |
LitVar | rs587777469 |
Map | rs587777469 |
PheGenI | rs587777469 |
Biobank | rs587777469 |
1000 genomes | rs587777469 |
hgdp | rs587777469 |
ensembl | rs587777469 |
geneview | rs587777469 |
scholar | rs587777469 |
rs587777469 | |
pharmgkb | rs587777469 |
gwascentral | rs587777469 |
openSNP | rs587777469 |
23andMe | rs587777469 |
SNPshot | rs587777469 |
SNPdbe | rs587777469 |
MSV3d | rs587777469 |
GWAS Ctlg | rs587777469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777469(-;-) |
Alt | rs587777469(-;-) |
Reference | Rs587777469(AGAG;AGAG) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 19 |
Variation | info |
Gene | TTLL5 |
CLNDBN | Cone-rod dystrophy 19 |
Reversed | 0 |
HGVS | NC_000014.8:g.76230993_76230996delAGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128414.2, |