rs398122408
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs398122408(-;-) |
Make rs398122408(-;CA) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 91003095 |
Gene | VPS33B |
is a | snp |
is | mentioned by |
dbSNP | rs398122408 |
dbSNP (classic) | rs398122408 |
ClinGen | rs398122408 |
ebi | rs398122408 |
HLI | rs398122408 |
Exac | rs398122408 |
Gnomad | rs398122408 |
Varsome | rs398122408 |
LitVar | rs398122408 |
Map | rs398122408 |
PheGenI | rs398122408 |
Biobank | rs398122408 |
1000 genomes | rs398122408 |
hgdp | rs398122408 |
ensembl | rs398122408 |
geneview | rs398122408 |
scholar | rs398122408 |
rs398122408 | |
pharmgkb | rs398122408 |
gwascentral | rs398122408 |
openSNP | rs398122408 |
23andMe | rs398122408 |
SNPshot | rs398122408 |
SNPdbe | rs398122408 |
MSV3d | rs398122408 |
GWAS Ctlg | rs398122408 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122408(-;-) |
Alt | rs398122408(-;-) |
Reference | Rs398122408(CA;CA) |
Significance | Pathogenic |
Disease | Arthrogryposis renal dysfunction cholestasis syndrome |
Variation | info |
Gene | VPS33B |
CLNDBN | Arthrogryposis renal dysfunction cholestasis syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.91546325_91546326delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074447.4, |