rs281865195
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGCAGAGCCACC;TGCAGAGCCACC) | 0 | common in clinvar |
Make rs281865195(-;-) |
Make rs281865195(-;TGCAGAGCCACC) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 6425551 |
Gene | AIPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865195 |
dbSNP (classic) | rs281865195 |
ClinGen | rs281865195 |
ebi | rs281865195 |
HLI | rs281865195 |
Exac | rs281865195 |
Gnomad | rs281865195 |
Varsome | rs281865195 |
LitVar | rs281865195 |
Map | rs281865195 |
PheGenI | rs281865195 |
Biobank | rs281865195 |
1000 genomes | rs281865195 |
hgdp | rs281865195 |
ensembl | rs281865195 |
geneview | rs281865195 |
scholar | rs281865195 |
rs281865195 | |
pharmgkb | rs281865195 |
gwascentral | rs281865195 |
openSNP | rs281865195 |
23andMe | rs281865195 |
SNPshot | rs281865195 |
SNPdbe | rs281865195 |
MSV3d | rs281865195 |
GWAS Ctlg | rs281865195 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865195(-;-) |
Alt | rs281865195(-;-) |
Reference | Rs281865195(TGCAGAGCCACC;TGCAGAGCCACC) |
Significance | Pathogenic |
Disease | Juvenile retinitis pigmentosa CONE-ROD DYSTROPHY not provided |
Variation | info |
Gene | AIPL1 |
CLNDBN | Juvenile retinitis pigmentosa, AIPL1-related CONE-ROD DYSTROPHY, AIPL1-RELATED not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.6328871_6328882delGGTGGCTCTGCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005909.2, RCV000005910.2, RCV000086210.1, |