rs869320727
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAAA;TAAA) | 0 | common in clinvar |
Make rs869320727(-;-) |
Make rs869320727(-;AATA) |
Make rs869320727(AATA;AATA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 54626169 |
Gene | RP1 |
is a | snp |
is | mentioned by |
dbSNP | rs869320727 |
dbSNP (classic) | rs869320727 |
ClinGen | rs869320727 |
ebi | rs869320727 |
HLI | rs869320727 |
Exac | rs869320727 |
Gnomad | rs869320727 |
Varsome | rs869320727 |
LitVar | rs869320727 |
Map | rs869320727 |
PheGenI | rs869320727 |
Biobank | rs869320727 |
1000 genomes | rs869320727 |
hgdp | rs869320727 |
ensembl | rs869320727 |
geneview | rs869320727 |
scholar | rs869320727 |
rs869320727 | |
pharmgkb | rs869320727 |
gwascentral | rs869320727 |
openSNP | rs869320727 |
23andMe | rs869320727 |
SNPshot | rs869320727 |
SNPdbe | rs869320727 |
MSV3d | rs869320727 |
GWAS Ctlg | rs869320727 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320727(-;-) |
Alt | rs869320727(-;-) |
Reference | Rs869320727(TAAA;TAAA) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 1 |
Variation | info |
Gene | RP1 |
CLNDBN | Retinitis pigmentosa 1 |
Reversed | 0 |
HGVS | NC_000008.10:g.55538729_55538732delAATA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006331.2, |