rs863224883
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs863224883(-;-) |
Make rs863224883(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 75028786 |
Gene | DUPD1, KAT6B |
is a | snp |
is | mentioned by |
dbSNP | rs863224883 |
dbSNP (classic) | rs863224883 |
ClinGen | rs863224883 |
ebi | rs863224883 |
HLI | rs863224883 |
Exac | rs863224883 |
Gnomad | rs863224883 |
Varsome | rs863224883 |
LitVar | rs863224883 |
Map | rs863224883 |
PheGenI | rs863224883 |
Biobank | rs863224883 |
1000 genomes | rs863224883 |
hgdp | rs863224883 |
ensembl | rs863224883 |
geneview | rs863224883 |
scholar | rs863224883 |
rs863224883 | |
pharmgkb | rs863224883 |
gwascentral | rs863224883 |
openSNP | rs863224883 |
23andMe | rs863224883 |
SNPshot | rs863224883 |
SNPdbe | rs863224883 |
MSV3d | rs863224883 |
GWAS Ctlg | rs863224883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224883(-;-) |
Alt | rs863224883(-;-) |
Reference | Rs863224883(AA;AA) |
Significance | Probable-Pathogenic |
Disease | Young Simpson syndrome |
Variation | info |
Gene | KAT6B |
CLNDBN | Young Simpson syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.76788544_76788545delAA |
CLNSRC | |
CLNACC | RCV000195677.1, |