rs771723580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTGG;TTGG) | 0 | common in clinvar |
Make rs771723580(-;-) |
Make rs771723580(-;TTGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 35509303 |
Gene | TULP1 |
is a | snp |
is | mentioned by |
dbSNP | rs771723580 |
dbSNP (classic) | rs771723580 |
ClinGen | rs771723580 |
ebi | rs771723580 |
HLI | rs771723580 |
Exac | rs771723580 |
Gnomad | rs771723580 |
Varsome | rs771723580 |
LitVar | rs771723580 |
Map | rs771723580 |
PheGenI | rs771723580 |
Biobank | rs771723580 |
1000 genomes | rs771723580 |
hgdp | rs771723580 |
ensembl | rs771723580 |
geneview | rs771723580 |
scholar | rs771723580 |
rs771723580 | |
pharmgkb | rs771723580 |
gwascentral | rs771723580 |
openSNP | rs771723580 |
23andMe | rs771723580 |
SNPshot | rs771723580 |
SNPdbe | rs771723580 |
MSV3d | rs771723580 |
GWAS Ctlg | rs771723580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771723580(-;-) |
Alt | rs771723580(-;-) |
Reference | Rs771723580(TTGG;TTGG) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 15 |
Variation | info |
Gene | TULP1 |
CLNDBN | Leber congenital amaurosis 15 |
Reversed | 0 |
HGVS | NC_000006.11:g.35477080_35477083delTTGG |
CLNSRC | |
CLNACC | RCV000180235.1, |