rs281865084
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281865084(-;-) |
Make rs281865084(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 98425687 |
Gene | HPS1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865084 |
dbSNP (classic) | rs281865084 |
ClinGen | rs281865084 |
ebi | rs281865084 |
HLI | rs281865084 |
Exac | rs281865084 |
Gnomad | rs281865084 |
Varsome | rs281865084 |
LitVar | rs281865084 |
Map | rs281865084 |
PheGenI | rs281865084 |
Biobank | rs281865084 |
1000 genomes | rs281865084 |
hgdp | rs281865084 |
ensembl | rs281865084 |
geneview | rs281865084 |
scholar | rs281865084 |
rs281865084 | |
pharmgkb | rs281865084 |
gwascentral | rs281865084 |
openSNP | rs281865084 |
23andMe | rs281865084 |
SNPshot | rs281865084 |
SNPdbe | rs281865084 |
MSV3d | rs281865084 |
GWAS Ctlg | rs281865084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865084(-;-) |
Alt | rs281865084(-;-) |
Reference | Rs281865084(G;G) |
Significance | Pathogenic |
Disease | Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome |
Variation | info |
Gene | HPS1 |
CLNDBN | Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.100185444delG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020181.1, RCV000282004.1, |