rs762078182
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs762078182(-;-) |
Make rs762078182(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 15994057 |
Gene | PROM1 |
is a | snp |
is | mentioned by |
dbSNP | rs762078182 |
dbSNP (classic) | rs762078182 |
ClinGen | rs762078182 |
ebi | rs762078182 |
HLI | rs762078182 |
Exac | rs762078182 |
Gnomad | rs762078182 |
Varsome | rs762078182 |
LitVar | rs762078182 |
Map | rs762078182 |
PheGenI | rs762078182 |
Biobank | rs762078182 |
1000 genomes | rs762078182 |
hgdp | rs762078182 |
ensembl | rs762078182 |
geneview | rs762078182 |
scholar | rs762078182 |
rs762078182 | |
pharmgkb | rs762078182 |
gwascentral | rs762078182 |
openSNP | rs762078182 |
23andMe | rs762078182 |
SNPshot | rs762078182 |
SNPdbe | rs762078182 |
MSV3d | rs762078182 |
GWAS Ctlg | rs762078182 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762078182(-;-) |
Alt | rs762078182(-;-) |
Reference | Rs762078182(T;T) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | PROM1 |
CLNDBN | Retinal dystrophy |
Reversed | 0 |
HGVS | NC_000004.11:g.15995680delT |
CLNSRC | |
CLNACC | RCV000225407.1, |