rs751163782
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs751163782(A;C) |
Make rs751163782(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 13369888 |
Gene | RAB28 |
is a | snp |
is | mentioned by |
dbSNP | rs751163782 |
dbSNP (classic) | rs751163782 |
ClinGen | rs751163782 |
ebi | rs751163782 |
HLI | rs751163782 |
Exac | rs751163782 |
Gnomad | rs751163782 |
Varsome | rs751163782 |
LitVar | rs751163782 |
Map | rs751163782 |
PheGenI | rs751163782 |
Biobank | rs751163782 |
1000 genomes | rs751163782 |
hgdp | rs751163782 |
ensembl | rs751163782 |
geneview | rs751163782 |
scholar | rs751163782 |
rs751163782 | |
pharmgkb | rs751163782 |
gwascentral | rs751163782 |
openSNP | rs751163782 |
23andMe | rs751163782 |
SNPshot | rs751163782 |
SNPdbe | rs751163782 |
MSV3d | rs751163782 |
GWAS Ctlg | rs751163782 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751163782(C;C) rs751163782(G;G) |
Alt | rs751163782(C;C) rs751163782(G;G) |
Reference | Rs751163782(A;A) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 18 |
Variation | info |
Gene | RAB28 |
CLNDBN | Cone-rod dystrophy 18 |
Reversed | 0 |
HGVS | NC_000004.11:g.13371512A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211107.2, |