rs869312712
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869312712(C;T) |
Make rs869312712(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 157084866 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs869312712 |
dbSNP (classic) | rs869312712 |
ClinGen | rs869312712 |
ebi | rs869312712 |
HLI | rs869312712 |
Exac | rs869312712 |
Gnomad | rs869312712 |
Varsome | rs869312712 |
LitVar | rs869312712 |
Map | rs869312712 |
PheGenI | rs869312712 |
Biobank | rs869312712 |
1000 genomes | rs869312712 |
hgdp | rs869312712 |
ensembl | rs869312712 |
geneview | rs869312712 |
scholar | rs869312712 |
rs869312712 | |
pharmgkb | rs869312712 |
gwascentral | rs869312712 |
openSNP | rs869312712 |
23andMe | rs869312712 |
SNPshot | rs869312712 |
SNPdbe | rs869312712 |
MSV3d | rs869312712 |
GWAS Ctlg | rs869312712 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312712(T;T) |
Alt | rs869312712(T;T) |
Reference | Rs869312712(C;C) |
Significance | Pathogenic |
Disease | Coffin-Siris syndrome 1 |
Variation | info |
Gene | ARID1B |
CLNDBN | Coffin-Siris syndrome 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.157406000C>T |
CLNSRC | |
CLNACC | RCV000209876.1, |