rs797044761
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044761(-;C) |
Make rs797044761(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 67725121 |
Gene | GPHN, RDH12 |
is a | snp |
is | mentioned by |
dbSNP | rs797044761 |
dbSNP (classic) | rs797044761 |
ClinGen | rs797044761 |
ebi | rs797044761 |
HLI | rs797044761 |
Exac | rs797044761 |
Gnomad | rs797044761 |
Varsome | rs797044761 |
LitVar | rs797044761 |
Map | rs797044761 |
PheGenI | rs797044761 |
Biobank | rs797044761 |
1000 genomes | rs797044761 |
hgdp | rs797044761 |
ensembl | rs797044761 |
geneview | rs797044761 |
scholar | rs797044761 |
rs797044761 | |
pharmgkb | rs797044761 |
gwascentral | rs797044761 |
openSNP | rs797044761 |
23andMe | rs797044761 |
SNPshot | rs797044761 |
SNPdbe | rs797044761 |
MSV3d | rs797044761 |
GWAS Ctlg | rs797044761 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044761(C;C) |
Alt | rs797044761(C;C) |
Reference | Rs797044761(-;-) |
Significance | Pathogenic |
Disease | not provided Leber congenital amaurosis 13 |
Variation | info |
Gene | RDH12 |
CLNDBN | not provided Leber congenital amaurosis 13 |
Reversed | 0 |
HGVS | NC_000014.8:g.68191838dupC |
CLNSRC | |
CLNACC | RCV000179019.1, RCV000330650.1, |