rs863225259
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACT;ACT) | 0 | common in clinvar |
Make rs863225259(-;-) |
Make rs863225259(-;ACT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 110582078 |
Gene | SMC3 |
is a | snp |
is | mentioned by |
dbSNP | rs863225259 |
dbSNP (classic) | rs863225259 |
ClinGen | rs863225259 |
ebi | rs863225259 |
HLI | rs863225259 |
Exac | rs863225259 |
Gnomad | rs863225259 |
Varsome | rs863225259 |
LitVar | rs863225259 |
Map | rs863225259 |
PheGenI | rs863225259 |
Biobank | rs863225259 |
1000 genomes | rs863225259 |
hgdp | rs863225259 |
ensembl | rs863225259 |
geneview | rs863225259 |
scholar | rs863225259 |
rs863225259 | |
pharmgkb | rs863225259 |
gwascentral | rs863225259 |
openSNP | rs863225259 |
23andMe | rs863225259 |
SNPshot | rs863225259 |
SNPdbe | rs863225259 |
MSV3d | rs863225259 |
GWAS Ctlg | rs863225259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225259(-;-) |
Alt | rs863225259(-;-) |
Reference | Rs863225259(ACT;ACT) |
Significance | Pathogenic |
Disease | Cornelia de Lange syndrome 3 |
Variation | info |
Gene | SMC3 |
CLNDBN | Cornelia de Lange syndrome 3 |
Reversed | 0 |
HGVS | NC_000010.10:g.112341836_112341838delACT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201849.1, |