rs281865095
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865095(C;G) |
Make rs281865095(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 149163950 |
Gene | CP, HPS3 |
is a | snp |
is | mentioned by |
dbSNP | rs281865095 |
dbSNP (classic) | rs281865095 |
ClinGen | rs281865095 |
ebi | rs281865095 |
HLI | rs281865095 |
Exac | rs281865095 |
Gnomad | rs281865095 |
Varsome | rs281865095 |
LitVar | rs281865095 |
Map | rs281865095 |
PheGenI | rs281865095 |
Biobank | rs281865095 |
1000 genomes | rs281865095 |
hgdp | rs281865095 |
ensembl | rs281865095 |
geneview | rs281865095 |
scholar | rs281865095 |
rs281865095 | |
pharmgkb | rs281865095 |
gwascentral | rs281865095 |
openSNP | rs281865095 |
23andMe | rs281865095 |
SNPshot | rs281865095 |
SNPdbe | rs281865095 |
MSV3d | rs281865095 |
GWAS Ctlg | rs281865095 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865095(A;A) rs281865095(G;G) |
Alt | rs281865095(A;A) rs281865095(G;G) |
Reference | Rs281865095(C;C) |
Significance | Pathogenic |
Disease | Hermansky-Pudlak syndrome 3 |
Variation | info |
Gene | HPS3 CP |
CLNDBN | Hermansky-Pudlak syndrome 3 |
Reversed | 1 |
HGVS | NC_000003.11:g.148881737G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004875.4, |