rs763191889
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs763191889(-;G) |
Make rs763191889(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 24082625 |
Gene | NRL |
is a | snp |
is | mentioned by |
dbSNP | rs763191889 |
dbSNP (classic) | rs763191889 |
ClinGen | rs763191889 |
ebi | rs763191889 |
HLI | rs763191889 |
Exac | rs763191889 |
Gnomad | rs763191889 |
Varsome | rs763191889 |
LitVar | rs763191889 |
Map | rs763191889 |
PheGenI | rs763191889 |
Biobank | rs763191889 |
1000 genomes | rs763191889 |
hgdp | rs763191889 |
ensembl | rs763191889 |
geneview | rs763191889 |
scholar | rs763191889 |
rs763191889 | |
pharmgkb | rs763191889 |
gwascentral | rs763191889 |
openSNP | rs763191889 |
23andMe | rs763191889 |
SNPshot | rs763191889 |
SNPdbe | rs763191889 |
MSV3d | rs763191889 |
GWAS Ctlg | rs763191889 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763191889(G;G) |
Alt | rs763191889(G;G) |
Reference | Rs763191889(-;-) |
Significance | Pathogenic |
Disease | Retinal degeneration |
Variation | info |
Gene | NRL |
CLNDBN | Retinal degeneration, autosomal recessive, clumped pigment type |
Reversed | 0 |
HGVS | NC_000014.8:g.24551835dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015087.25, |