rs201893545
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201893545(A;G) |
Make rs201893545(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 101304277 |
Gene | IMPG2 |
is a | snp |
is | mentioned by |
dbSNP | rs201893545 |
dbSNP (classic) | rs201893545 |
ClinGen | rs201893545 |
ebi | rs201893545 |
HLI | rs201893545 |
Exac | rs201893545 |
Gnomad | rs201893545 |
Varsome | rs201893545 |
LitVar | rs201893545 |
Map | rs201893545 |
PheGenI | rs201893545 |
Biobank | rs201893545 |
1000 genomes | rs201893545 |
hgdp | rs201893545 |
ensembl | rs201893545 |
geneview | rs201893545 |
scholar | rs201893545 |
rs201893545 | |
pharmgkb | rs201893545 |
gwascentral | rs201893545 |
openSNP | rs201893545 |
23andMe | rs201893545 |
SNPshot | rs201893545 |
SNPdbe | rs201893545 |
MSV3d | rs201893545 |
GWAS Ctlg | rs201893545 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201893545(G;G) |
Alt | rs201893545(G;G) |
Reference | Rs201893545(A;A) |
Significance | Pathogenic |
Disease | Macular dystrophy |
Variation | info |
Gene | IMPG2 |
CLNDBN | Macular dystrophy, vitelliform, 5 |
Reversed | 0 |
HGVS | NC_000003.11:g.101023121A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003728.3, |