rs199476197
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199476197(A;C) |
Make rs199476197(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 186205204 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs199476197 |
dbSNP (classic) | rs199476197 |
ClinGen | rs199476197 |
ebi | rs199476197 |
HLI | rs199476197 |
Exac | rs199476197 |
Gnomad | rs199476197 |
Varsome | rs199476197 |
LitVar | rs199476197 |
Map | rs199476197 |
PheGenI | rs199476197 |
Biobank | rs199476197 |
1000 genomes | rs199476197 |
hgdp | rs199476197 |
ensembl | rs199476197 |
geneview | rs199476197 |
scholar | rs199476197 |
rs199476197 | |
pharmgkb | rs199476197 |
gwascentral | rs199476197 |
openSNP | rs199476197 |
23andMe | rs199476197 |
SNPshot | rs199476197 |
SNPdbe | rs199476197 |
MSV3d | rs199476197 |
GWAS Ctlg | rs199476197 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476197(C;C) |
Alt | rs199476197(C;C) |
Reference | Rs199476197(A;A) |
Significance | Pathogenic |
Disease | Bietti crystalline corneoretinal dystrophy not provided |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.187126358A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032552.4, RCV000490060.1, |