rs1060499578
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCCA;TCCA) | 0 | common in clinvar |
Make rs1060499578(-;-) |
Make rs1060499578(-;TCCA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 67722699 |
Gene | GPHN, RDH12 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499578 |
dbSNP (classic) | rs1060499578 |
ClinGen | rs1060499578 |
ebi | rs1060499578 |
HLI | rs1060499578 |
Exac | rs1060499578 |
Gnomad | rs1060499578 |
Varsome | rs1060499578 |
LitVar | rs1060499578 |
Map | rs1060499578 |
PheGenI | rs1060499578 |
Biobank | rs1060499578 |
1000 genomes | rs1060499578 |
hgdp | rs1060499578 |
ensembl | rs1060499578 |
geneview | rs1060499578 |
scholar | rs1060499578 |
rs1060499578 | |
pharmgkb | rs1060499578 |
gwascentral | rs1060499578 |
openSNP | rs1060499578 |
23andMe | rs1060499578 |
SNPshot | rs1060499578 |
SNPdbe | rs1060499578 |
MSV3d | rs1060499578 |
GWAS Ctlg | rs1060499578 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499578(-;-) |
Alt | rs1060499578(-;-) |
Reference | Rs1060499578(TCCA;TCCA) |
Significance | Probable-Pathogenic |
Disease | Leber congenital amaurosis 13 |
Variation | info |
Gene | RDH12 |
CLNDBN | Leber congenital amaurosis 13 |
Reversed | 0 |
HGVS | NC_000014.8:g.68189422_68189425delCATC |
CLNSRC | |
CLNACC | RCV000185560.3, |