rs863223278
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863223278(-;-) |
Make rs863223278(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 26479340 |
Gene | HPS4 |
is a | snp |
is | mentioned by |
dbSNP | rs863223278 |
dbSNP (classic) | rs863223278 |
ClinGen | rs863223278 |
ebi | rs863223278 |
HLI | rs863223278 |
Exac | rs863223278 |
Gnomad | rs863223278 |
Varsome | rs863223278 |
LitVar | rs863223278 |
Map | rs863223278 |
PheGenI | rs863223278 |
Biobank | rs863223278 |
1000 genomes | rs863223278 |
hgdp | rs863223278 |
ensembl | rs863223278 |
geneview | rs863223278 |
scholar | rs863223278 |
rs863223278 | |
pharmgkb | rs863223278 |
gwascentral | rs863223278 |
openSNP | rs863223278 |
23andMe | rs863223278 |
SNPshot | rs863223278 |
SNPdbe | rs863223278 |
MSV3d | rs863223278 |
GWAS Ctlg | rs863223278 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223278(-;-) |
Alt | rs863223278(-;-) |
Reference | Rs863223278(T;T) |
Significance | Pathogenic |
Disease | Hermansky-Pudlak syndrome 4 |
Variation | info |
Gene | HPS4 |
CLNDBN | Hermansky-Pudlak syndrome 4 |
Reversed | 1 |
HGVS | NC_000022.10:g.26875306delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004343.3, |