rs886040958
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs886040958(-;-) |
Make rs886040958(-;CC) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 6 |
Position | 157207396 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs886040958 |
dbSNP (classic) | rs886040958 |
ClinGen | rs886040958 |
ebi | rs886040958 |
HLI | rs886040958 |
Exac | rs886040958 |
Gnomad | rs886040958 |
Varsome | rs886040958 |
LitVar | rs886040958 |
Map | rs886040958 |
PheGenI | rs886040958 |
Biobank | rs886040958 |
1000 genomes | rs886040958 |
hgdp | rs886040958 |
ensembl | rs886040958 |
geneview | rs886040958 |
scholar | rs886040958 |
rs886040958 | |
pharmgkb | rs886040958 |
gwascentral | rs886040958 |
openSNP | rs886040958 |
23andMe | rs886040958 |
SNPshot | rs886040958 |
SNPdbe | rs886040958 |
MSV3d | rs886040958 |
GWAS Ctlg | rs886040958 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886040958(-;-) |
Alt | rs886040958(-;-) |
Reference | Rs886040958(CC;CC) |
Significance | Pathogenic |
Disease | Coffin-Siris syndrome 1 |
Variation | info |
Gene | ARID1B |
CLNDBN | Coffin-Siris syndrome 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.157528530_157528531delCC |
CLNSRC | |
CLNACC | RCV000258010.1, |