rs281865473
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs281865473(-;-) |
Make rs281865473(-;TT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 46171158 |
Gene | KANSL1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865473 |
dbSNP (classic) | rs281865473 |
ClinGen | rs281865473 |
ebi | rs281865473 |
HLI | rs281865473 |
Exac | rs281865473 |
Gnomad | rs281865473 |
Varsome | rs281865473 |
LitVar | rs281865473 |
Map | rs281865473 |
PheGenI | rs281865473 |
Biobank | rs281865473 |
1000 genomes | rs281865473 |
hgdp | rs281865473 |
ensembl | rs281865473 |
geneview | rs281865473 |
scholar | rs281865473 |
rs281865473 | |
pharmgkb | rs281865473 |
gwascentral | rs281865473 |
openSNP | rs281865473 |
23andMe | rs281865473 |
SNPshot | rs281865473 |
SNPdbe | rs281865473 |
MSV3d | rs281865473 |
GWAS Ctlg | rs281865473 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865473(-;-) |
Alt | rs281865473(-;-) |
Reference | Rs281865473(TT;TT) |
Significance | Pathogenic |
Disease | Koolen-de Vries syndrome |
Variation | info |
Gene | KANSL1 |
CLNDBN | Koolen-de Vries syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.44248524_44248525delAA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032181.1, |