rs1057519498
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057519498(-;C) |
Make rs1057519498(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 33739365 |
Gene | ASXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519498 |
dbSNP (classic) | rs1057519498 |
ClinGen | rs1057519498 |
ebi | rs1057519498 |
HLI | rs1057519498 |
Exac | rs1057519498 |
Gnomad | rs1057519498 |
Varsome | rs1057519498 |
LitVar | rs1057519498 |
Map | rs1057519498 |
PheGenI | rs1057519498 |
Biobank | rs1057519498 |
1000 genomes | rs1057519498 |
hgdp | rs1057519498 |
ensembl | rs1057519498 |
geneview | rs1057519498 |
scholar | rs1057519498 |
rs1057519498 | |
pharmgkb | rs1057519498 |
gwascentral | rs1057519498 |
openSNP | rs1057519498 |
23andMe | rs1057519498 |
SNPshot | rs1057519498 |
SNPdbe | rs1057519498 |
MSV3d | rs1057519498 |
GWAS Ctlg | rs1057519498 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519498(C;C) |
Alt | rs1057519498(C;C) |
Reference | Rs1057519498(-;-) |
Significance | Pathogenic |
Disease | Bainbridge-Ropers syndrome |
Variation | info |
Gene | ASXL3 |
CLNDBN | Bainbridge-Ropers syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.31319329dupC |
CLNSRC | |
CLNACC | RCV000416511.1, |