rs797045909
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045909(-;AG) |
Make rs797045909(AG;AG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 116857361 |
Gene | RAD21 |
is a | snp |
is | mentioned by |
dbSNP | rs797045909 |
dbSNP (classic) | rs797045909 |
ClinGen | rs797045909 |
ebi | rs797045909 |
HLI | rs797045909 |
Exac | rs797045909 |
Gnomad | rs797045909 |
Varsome | rs797045909 |
LitVar | rs797045909 |
Map | rs797045909 |
PheGenI | rs797045909 |
Biobank | rs797045909 |
1000 genomes | rs797045909 |
hgdp | rs797045909 |
ensembl | rs797045909 |
geneview | rs797045909 |
scholar | rs797045909 |
rs797045909 | |
pharmgkb | rs797045909 |
gwascentral | rs797045909 |
openSNP | rs797045909 |
23andMe | rs797045909 |
SNPshot | rs797045909 |
SNPdbe | rs797045909 |
MSV3d | rs797045909 |
GWAS Ctlg | rs797045909 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045909(AG;AG) |
Alt | rs797045909(AG;AG) |
Reference | Rs797045909(-;-) |
Significance | Pathogenic |
Disease | Cornelia de Lange syndrome 4 |
Variation | info |
Gene | RAD21 |
CLNDBN | Cornelia de Lange syndrome 4 |
Reversed | 1 |
HGVS | NC_000008.10:g.117869601_117869602dupCT |
CLNSRC | |
CLNACC | RCV000192699.1, |