rs281865101
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865101(-;G) |
Make rs281865101(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 18305438 |
Gene | HPS5 |
is a | snp |
is | mentioned by |
dbSNP | rs281865101 |
dbSNP (classic) | rs281865101 |
ClinGen | rs281865101 |
ebi | rs281865101 |
HLI | rs281865101 |
Exac | rs281865101 |
Gnomad | rs281865101 |
Varsome | rs281865101 |
LitVar | rs281865101 |
Map | rs281865101 |
PheGenI | rs281865101 |
Biobank | rs281865101 |
1000 genomes | rs281865101 |
hgdp | rs281865101 |
ensembl | rs281865101 |
geneview | rs281865101 |
scholar | rs281865101 |
rs281865101 | |
pharmgkb | rs281865101 |
gwascentral | rs281865101 |
openSNP | rs281865101 |
23andMe | rs281865101 |
SNPshot | rs281865101 |
SNPdbe | rs281865101 |
MSV3d | rs281865101 |
GWAS Ctlg | rs281865101 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865101(G;G) |
Alt | rs281865101(G;G) |
Reference | Rs281865101(-;-) |
Significance | Pathogenic |
Disease | Hermansky-Pudlak syndrome 5 |
Variation | info |
Gene | HPS5 |
CLNDBN | Hermansky-Pudlak syndrome 5 |
Reversed | 0 |
HGVS | NC_000011.9:g.18326986dupG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000021033.1, |