rs797045277
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045277(A;A) |
Make rs797045277(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 157198907 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs797045277 |
dbSNP (classic) | rs797045277 |
ClinGen | rs797045277 |
ebi | rs797045277 |
HLI | rs797045277 |
Exac | rs797045277 |
Gnomad | rs797045277 |
Varsome | rs797045277 |
LitVar | rs797045277 |
Map | rs797045277 |
PheGenI | rs797045277 |
Biobank | rs797045277 |
1000 genomes | rs797045277 |
hgdp | rs797045277 |
ensembl | rs797045277 |
geneview | rs797045277 |
scholar | rs797045277 |
rs797045277 | |
pharmgkb | rs797045277 |
gwascentral | rs797045277 |
openSNP | rs797045277 |
23andMe | rs797045277 |
SNPshot | rs797045277 |
SNPdbe | rs797045277 |
MSV3d | rs797045277 |
GWAS Ctlg | rs797045277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045277(A;A) |
Alt | rs797045277(A;A) |
Reference | Rs797045277(G;G) |
Significance | Pathogenic |
Disease | Mental retardation Constipation Decreased body weight Failure to thrive Microcephaly Recurrent respiratory infections Seizures Short stature Coffin-Siris syndrome 1 |
Variation | info |
Gene | ARID1B |
CLNDBN | Mental retardation, autosomal dominant 12 Constipation Decreased body weight Failure to thrive Microcephaly Recurrent respiratory infections Seizures Short stature Coffin-Siris syndrome 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.157520041G>A |
CLNSRC | |
CLNACC | RCV000193966.1, RCV000415059.1, RCV000416951.1, |