rs797045181
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797045181(A;G) |
Make rs797045181(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 186209263 |
Gene | CYP4V2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045181 |
dbSNP (classic) | rs797045181 |
ClinGen | rs797045181 |
ebi | rs797045181 |
HLI | rs797045181 |
Exac | rs797045181 |
Gnomad | rs797045181 |
Varsome | rs797045181 |
LitVar | rs797045181 |
Map | rs797045181 |
PheGenI | rs797045181 |
Biobank | rs797045181 |
1000 genomes | rs797045181 |
hgdp | rs797045181 |
ensembl | rs797045181 |
geneview | rs797045181 |
scholar | rs797045181 |
rs797045181 | |
pharmgkb | rs797045181 |
gwascentral | rs797045181 |
openSNP | rs797045181 |
23andMe | rs797045181 |
SNPshot | rs797045181 |
SNPdbe | rs797045181 |
MSV3d | rs797045181 |
GWAS Ctlg | rs797045181 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045181(G;G) |
Alt | rs797045181(G;G) |
Reference | Rs797045181(A;A) |
Significance | Pathogenic |
Disease | Bietti crystalline corneoretinal dystrophy |
Variation | info |
Gene | CYP4V2 |
CLNDBN | Bietti crystalline corneoretinal dystrophy |
Reversed | 0 |
HGVS | NC_000004.11:g.187130417A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000191926.2, |