rs387907144
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907144(C;T) |
Make rs387907144(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 157181056 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs387907144 |
dbSNP (classic) | rs387907144 |
ClinGen | rs387907144 |
ebi | rs387907144 |
HLI | rs387907144 |
Exac | rs387907144 |
Gnomad | rs387907144 |
Varsome | rs387907144 |
LitVar | rs387907144 |
Map | rs387907144 |
PheGenI | rs387907144 |
Biobank | rs387907144 |
1000 genomes | rs387907144 |
hgdp | rs387907144 |
ensembl | rs387907144 |
geneview | rs387907144 |
scholar | rs387907144 |
rs387907144 | |
pharmgkb | rs387907144 |
gwascentral | rs387907144 |
openSNP | rs387907144 |
23andMe | rs387907144 |
SNPshot | rs387907144 |
SNPdbe | rs387907144 |
MSV3d | rs387907144 |
GWAS Ctlg | rs387907144 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907144(T;T) |
Alt | rs387907144(T;T) |
Reference | Rs387907144(C;C) |
Significance | Pathogenic |
Disease | Coffin-Siris syndrome 1 not provided |
Variation | info |
Gene | ARID1B |
CLNDBN | Coffin-Siris syndrome 1 not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.157502190C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024215.3, RCV000481866.1, |