rs527236099
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236099(-;-) |
Make rs527236099(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 67729308 |
Gene | GPHN, RDH12, ZFYVE26 |
is a | snp |
is | mentioned by |
dbSNP | rs527236099 |
dbSNP (classic) | rs527236099 |
ClinGen | rs527236099 |
ebi | rs527236099 |
HLI | rs527236099 |
Exac | rs527236099 |
Gnomad | rs527236099 |
Varsome | rs527236099 |
LitVar | rs527236099 |
Map | rs527236099 |
PheGenI | rs527236099 |
Biobank | rs527236099 |
1000 genomes | rs527236099 |
hgdp | rs527236099 |
ensembl | rs527236099 |
geneview | rs527236099 |
scholar | rs527236099 |
rs527236099 | |
pharmgkb | rs527236099 |
gwascentral | rs527236099 |
openSNP | rs527236099 |
23andMe | rs527236099 |
SNPshot | rs527236099 |
SNPdbe | rs527236099 |
MSV3d | rs527236099 |
GWAS Ctlg | rs527236099 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236099(-;-) |
Alt | rs527236099(-;-) |
Reference | Rs527236099(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | RDH12 |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000014.8:g.68196025delG |
CLNSRC | ClinVar |
CLNACC | RCV000132692.1, |