rs119471021
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119471021(C;T) |
Make rs119471021(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 26457923 |
Gene | HPS4 |
is a | snp |
is | mentioned by |
dbSNP | rs119471021 |
dbSNP (classic) | rs119471021 |
ClinGen | rs119471021 |
ebi | rs119471021 |
HLI | rs119471021 |
Exac | rs119471021 |
Gnomad | rs119471021 |
Varsome | rs119471021 |
LitVar | rs119471021 |
Map | rs119471021 |
PheGenI | rs119471021 |
Biobank | rs119471021 |
1000 genomes | rs119471021 |
hgdp | rs119471021 |
ensembl | rs119471021 |
geneview | rs119471021 |
scholar | rs119471021 |
rs119471021 | |
pharmgkb | rs119471021 |
gwascentral | rs119471021 |
openSNP | rs119471021 |
23andMe | rs119471021 |
SNPshot | rs119471021 |
SNPdbe | rs119471021 |
MSV3d | rs119471021 |
GWAS Ctlg | rs119471021 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119471021(T;T) |
Alt | rs119471021(T;T) |
Reference | Rs119471021(C;C) |
Significance | Pathogenic |
Disease | Hermansky-Pudlak syndrome 4 |
Variation | info |
Gene | HPS4 |
CLNDBN | Hermansky-Pudlak syndrome 4 |
Reversed | 1 |
HGVS | NC_000022.10:g.26853889G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004341.1, |