rs869312837
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312837(A;A) |
Make rs869312837(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 78216125 |
Gene | AP3B1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312837 |
dbSNP (classic) | rs869312837 |
ClinGen | rs869312837 |
ebi | rs869312837 |
HLI | rs869312837 |
Exac | rs869312837 |
Gnomad | rs869312837 |
Varsome | rs869312837 |
LitVar | rs869312837 |
Map | rs869312837 |
PheGenI | rs869312837 |
Biobank | rs869312837 |
1000 genomes | rs869312837 |
hgdp | rs869312837 |
ensembl | rs869312837 |
geneview | rs869312837 |
scholar | rs869312837 |
rs869312837 | |
pharmgkb | rs869312837 |
gwascentral | rs869312837 |
openSNP | rs869312837 |
23andMe | rs869312837 |
SNPshot | rs869312837 |
SNPdbe | rs869312837 |
MSV3d | rs869312837 |
GWAS Ctlg | rs869312837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312837(A;A) |
Alt | rs869312837(A;A) |
Reference | Rs869312837(G;G) |
Significance | Pathogenic |
Disease | Hermansky Pudlak syndrome 2 |
Variation | info |
Gene | AP3B1 |
CLNDBN | Hermansky Pudlak syndrome 2 |
Reversed | 1 |
HGVS | NC_000005.9:g.77511949C>T |
CLNSRC | |
CLNACC | RCV000210320.1, |