rs61748436
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61748436(A;A) |
Make rs61748436(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 47836264 |
Gene | CRX |
is a | snp |
is | mentioned by |
dbSNP | rs61748436 |
dbSNP (classic) | rs61748436 |
ClinGen | rs61748436 |
ebi | rs61748436 |
HLI | rs61748436 |
Exac | rs61748436 |
Gnomad | rs61748436 |
Varsome | rs61748436 |
LitVar | rs61748436 |
Map | rs61748436 |
PheGenI | rs61748436 |
Biobank | rs61748436 |
1000 genomes | rs61748436 |
hgdp | rs61748436 |
ensembl | rs61748436 |
geneview | rs61748436 |
scholar | rs61748436 |
rs61748436 | |
pharmgkb | rs61748436 |
gwascentral | rs61748436 |
openSNP | rs61748436 |
23andMe | rs61748436 |
SNPshot | rs61748436 |
SNPdbe | rs61748436 |
MSV3d | rs61748436 |
GWAS Ctlg | rs61748436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61748436(A;A) |
Alt | rs61748436(A;A) |
Reference | Rs61748436(G;G) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 2 not provided |
Variation | info |
Gene | CRX |
CLNDBN | Cone-rod dystrophy 2 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.48339521G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007846.3, RCV000085990.1, |