rs119103284
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs119103284(A;A) |
Make rs119103284(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186210586 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs119103284 |
dbSNP (classic) | rs119103284 |
ClinGen | rs119103284 |
ebi | rs119103284 |
HLI | rs119103284 |
Exac | rs119103284 |
Gnomad | rs119103284 |
Varsome | rs119103284 |
LitVar | rs119103284 |
Map | rs119103284 |
PheGenI | rs119103284 |
Biobank | rs119103284 |
1000 genomes | rs119103284 |
hgdp | rs119103284 |
ensembl | rs119103284 |
geneview | rs119103284 |
scholar | rs119103284 |
rs119103284 | |
pharmgkb | rs119103284 |
gwascentral | rs119103284 |
openSNP | rs119103284 |
23andMe | rs119103284 |
SNPshot | rs119103284 |
SNPdbe | rs119103284 |
MSV3d | rs119103284 |
GWAS Ctlg | rs119103284 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103284(A;A) |
Alt | rs119103284(A;A) |
Reference | Rs119103284(G;G) |
Significance | Pathogenic |
Disease | Bietti crystalline corneoretinal dystrophy |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy |
Reversed | 0 |
HGVS | NC_000004.11:g.187131740G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002273.4, |