rs748363079
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs748363079(C;C) |
Make rs748363079(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 157198835 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs748363079 |
dbSNP (classic) | rs748363079 |
ClinGen | rs748363079 |
ebi | rs748363079 |
HLI | rs748363079 |
Exac | rs748363079 |
Gnomad | rs748363079 |
Varsome | rs748363079 |
LitVar | rs748363079 |
Map | rs748363079 |
PheGenI | rs748363079 |
Biobank | rs748363079 |
1000 genomes | rs748363079 |
hgdp | rs748363079 |
ensembl | rs748363079 |
geneview | rs748363079 |
scholar | rs748363079 |
rs748363079 | |
pharmgkb | rs748363079 |
gwascentral | rs748363079 |
openSNP | rs748363079 |
23andMe | rs748363079 |
SNPshot | rs748363079 |
SNPdbe | rs748363079 |
MSV3d | rs748363079 |
GWAS Ctlg | rs748363079 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748363079(A;A) rs748363079(C;C) |
Alt | rs748363079(A;A) rs748363079(C;C) |
Reference | Rs748363079(T;T) |
Significance | Pathogenic |
Disease | Coffin-Siris syndrome 1 |
Variation | info |
Gene | ARID1B |
CLNDBN | Coffin-Siris syndrome 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.157519969T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024211.3, |