rs797045908
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045908(-;A) |
Make rs797045908(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 116857375 |
Gene | RAD21 |
is a | snp |
is | mentioned by |
dbSNP | rs797045908 |
dbSNP (classic) | rs797045908 |
ClinGen | rs797045908 |
ebi | rs797045908 |
HLI | rs797045908 |
Exac | rs797045908 |
Gnomad | rs797045908 |
Varsome | rs797045908 |
LitVar | rs797045908 |
Map | rs797045908 |
PheGenI | rs797045908 |
Biobank | rs797045908 |
1000 genomes | rs797045908 |
hgdp | rs797045908 |
ensembl | rs797045908 |
geneview | rs797045908 |
scholar | rs797045908 |
rs797045908 | |
pharmgkb | rs797045908 |
gwascentral | rs797045908 |
openSNP | rs797045908 |
23andMe | rs797045908 |
SNPshot | rs797045908 |
SNPdbe | rs797045908 |
MSV3d | rs797045908 |
GWAS Ctlg | rs797045908 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045908(A;A) |
Alt | rs797045908(A;A) |
Reference | Rs797045908(-;-) |
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.117869615dupT |
CLNSRC | |
CLNACC | RCV000195046.1, |