rs863223279
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs863223279(-;-) |
Make rs863223279(-;AGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 110589946 |
Gene | SMC3 |
is a | snp |
is | mentioned by |
dbSNP | rs863223279 |
dbSNP (classic) | rs863223279 |
ClinGen | rs863223279 |
ebi | rs863223279 |
HLI | rs863223279 |
Exac | rs863223279 |
Gnomad | rs863223279 |
Varsome | rs863223279 |
LitVar | rs863223279 |
Map | rs863223279 |
PheGenI | rs863223279 |
Biobank | rs863223279 |
1000 genomes | rs863223279 |
hgdp | rs863223279 |
ensembl | rs863223279 |
geneview | rs863223279 |
scholar | rs863223279 |
rs863223279 | |
pharmgkb | rs863223279 |
gwascentral | rs863223279 |
openSNP | rs863223279 |
23andMe | rs863223279 |
SNPshot | rs863223279 |
SNPdbe | rs863223279 |
MSV3d | rs863223279 |
GWAS Ctlg | rs863223279 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223279(-;-) |
Alt | rs863223279(-;-) |
Reference | Rs863223279(AGA;AGA) |
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.112349704_112349706delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004894.3, |