rs281865469
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865469(C;T) |
Make rs281865469(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 46066569 |
Gene | KANSL1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865469 |
dbSNP (classic) | rs281865469 |
ClinGen | rs281865469 |
ebi | rs281865469 |
HLI | rs281865469 |
Exac | rs281865469 |
Gnomad | rs281865469 |
Varsome | rs281865469 |
LitVar | rs281865469 |
Map | rs281865469 |
PheGenI | rs281865469 |
Biobank | rs281865469 |
1000 genomes | rs281865469 |
hgdp | rs281865469 |
ensembl | rs281865469 |
geneview | rs281865469 |
scholar | rs281865469 |
rs281865469 | |
pharmgkb | rs281865469 |
gwascentral | rs281865469 |
openSNP | rs281865469 |
23andMe | rs281865469 |
SNPshot | rs281865469 |
SNPdbe | rs281865469 |
MSV3d | rs281865469 |
GWAS Ctlg | rs281865469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865469(G;G) rs281865469(T;T) |
Alt | rs281865469(G;G) rs281865469(T;T) |
Reference | Rs281865469(C;C) |
Significance | Pathogenic |
Disease | Koolen-de Vries syndrome |
Variation | info |
Gene | KANSL1 |
CLNDBN | Koolen-de Vries syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.44143935G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024371.2, |