rs369053765
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs369053765(A;A) |
Make rs369053765(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 26464498 |
Gene | HPS4 |
is a | snp |
is | mentioned by |
dbSNP | rs369053765 |
dbSNP (classic) | rs369053765 |
ClinGen | rs369053765 |
ebi | rs369053765 |
HLI | rs369053765 |
Exac | rs369053765 |
Gnomad | rs369053765 |
Varsome | rs369053765 |
LitVar | rs369053765 |
Map | rs369053765 |
PheGenI | rs369053765 |
Biobank | rs369053765 |
1000 genomes | rs369053765 |
hgdp | rs369053765 |
ensembl | rs369053765 |
geneview | rs369053765 |
scholar | rs369053765 |
rs369053765 | |
pharmgkb | rs369053765 |
gwascentral | rs369053765 |
openSNP | rs369053765 |
23andMe | rs369053765 |
SNPshot | rs369053765 |
SNPdbe | rs369053765 |
MSV3d | rs369053765 |
GWAS Ctlg | rs369053765 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369053765(A;A) rs369053765(C;C) |
Alt | rs369053765(A;A) rs369053765(C;C) |
Reference | Rs369053765(G;G) |
Significance | Probable-Pathogenic |
Disease | Hermansky-Pudlak syndrome |
Variation | info |
Gene | HPS4 |
CLNDBN | Hermansky-Pudlak syndrome |
Reversed | 0 |
HGVS | NC_000022.10:g.26860464G>A |
CLNSRC | |
CLNACC | RCV000214159.1, |