rs878853329
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGAA;AGAA) | 0 | common in clinvar |
(GAAA;GAAA) | 0 | common in clinvar |
Make rs878853329(-;-) |
Make rs878853329(-;GAAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 54625480 |
Gene | RP1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853329 |
dbSNP (classic) | rs878853329 |
ClinGen | rs878853329 |
ebi | rs878853329 |
HLI | rs878853329 |
Exac | rs878853329 |
Gnomad | rs878853329 |
Varsome | rs878853329 |
LitVar | rs878853329 |
Map | rs878853329 |
PheGenI | rs878853329 |
Biobank | rs878853329 |
1000 genomes | rs878853329 |
hgdp | rs878853329 |
ensembl | rs878853329 |
geneview | rs878853329 |
scholar | rs878853329 |
rs878853329 | |
pharmgkb | rs878853329 |
gwascentral | rs878853329 |
openSNP | rs878853329 |
23andMe | rs878853329 |
SNPshot | rs878853329 |
SNPdbe | rs878853329 |
MSV3d | rs878853329 |
GWAS Ctlg | rs878853329 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853329(-;-) Rs878853329(AGAA;AGAA) |
Alt | rs878853329(-;-) Rs878853329(AGAA;AGAA) |
Reference | Rs878853329(GAAA;GAAA) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy |
Variation | info |
Gene | RP1 |
CLNDBN | Retinal dystrophy |
Reversed | 0 |
HGVS | NC_000008.10:g.55538040_55538043delGAAA |
CLNSRC | |
CLNACC | RCV000225395.1, |