rs869312962
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869312962(-;A) |
Make rs869312962(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 75022122 |
Gene | KAT6B |
is a | snp |
is | mentioned by |
dbSNP | rs869312962 |
dbSNP (classic) | rs869312962 |
ClinGen | rs869312962 |
ebi | rs869312962 |
HLI | rs869312962 |
Exac | rs869312962 |
Gnomad | rs869312962 |
Varsome | rs869312962 |
LitVar | rs869312962 |
Map | rs869312962 |
PheGenI | rs869312962 |
Biobank | rs869312962 |
1000 genomes | rs869312962 |
hgdp | rs869312962 |
ensembl | rs869312962 |
geneview | rs869312962 |
scholar | rs869312962 |
rs869312962 | |
pharmgkb | rs869312962 |
gwascentral | rs869312962 |
openSNP | rs869312962 |
23andMe | rs869312962 |
SNPshot | rs869312962 |
SNPdbe | rs869312962 |
MSV3d | rs869312962 |
GWAS Ctlg | rs869312962 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312962(A;A) |
Alt | rs869312962(A;A) |
Reference | Rs869312962(-;-) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | KAT6B |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000010.10:g.76781880dupA |
CLNSRC | |
CLNACC | RCV000210551.1, |