rs878853391
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs878853391(A;A) |
Make rs878853391(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 21320155 |
Gene | RPGRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853391 |
dbSNP (classic) | rs878853391 |
ClinGen | rs878853391 |
ebi | rs878853391 |
HLI | rs878853391 |
Exac | rs878853391 |
Gnomad | rs878853391 |
Varsome | rs878853391 |
LitVar | rs878853391 |
Map | rs878853391 |
PheGenI | rs878853391 |
Biobank | rs878853391 |
1000 genomes | rs878853391 |
hgdp | rs878853391 |
ensembl | rs878853391 |
geneview | rs878853391 |
scholar | rs878853391 |
rs878853391 | |
pharmgkb | rs878853391 |
gwascentral | rs878853391 |
openSNP | rs878853391 |
23andMe | rs878853391 |
SNPshot | rs878853391 |
SNPdbe | rs878853391 |
MSV3d | rs878853391 |
GWAS Ctlg | rs878853391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853391(A;A) |
Alt | rs878853391(A;A) |
Reference | Rs878853391(T;T) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | RPGRIP1 |
CLNDBN | Retinal dystrophy |
Reversed | 0 |
HGVS | NC_000014.8:g.21788314T>A |
CLNSRC | |
CLNACC | RCV000225431.1, |