rs281865164
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865164(-;GCTTGTCCAGATGGCAGGAAGGAG) |
Make rs281865164(GCTTGTCCAGATGGCAGGAAGGAG;GCTTGTCCAGATGGCAGGAAGGAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 26464657 |
Gene | HPS4 |
is a | snp |
is | mentioned by |
dbSNP | rs281865164 |
dbSNP (classic) | rs281865164 |
ClinGen | rs281865164 |
ebi | rs281865164 |
HLI | rs281865164 |
Exac | rs281865164 |
Gnomad | rs281865164 |
Varsome | rs281865164 |
LitVar | rs281865164 |
Map | rs281865164 |
PheGenI | rs281865164 |
Biobank | rs281865164 |
1000 genomes | rs281865164 |
hgdp | rs281865164 |
ensembl | rs281865164 |
geneview | rs281865164 |
scholar | rs281865164 |
rs281865164 | |
pharmgkb | rs281865164 |
gwascentral | rs281865164 |
openSNP | rs281865164 |
23andMe | rs281865164 |
SNPshot | rs281865164 |
SNPdbe | rs281865164 |
MSV3d | rs281865164 |
GWAS Ctlg | rs281865164 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865164(GCTTGTCCAGATGGCAGGAAGGAG;GCTTGTCCAGATGGCAGGAAGGAG) |
Alt | rs281865164(GCTTGTCCAGATGGCAGGAAGGAG;GCTTGTCCAGATGGCAGGAAGGAG) |
Reference | Rs281865164(-;-) |
Significance | Pathogenic |
Disease | Hermansky-Pudlak syndrome 4 |
Variation | info |
Gene | HPS4 |
CLNDBN | Hermansky-Pudlak syndrome 4 |
Reversed | 1 |
HGVS | NC_000022.10:g.26860624_26860647dup24 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004345.3, |