rs587777325
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777325(A;T) |
Make rs587777325(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 9445055 |
Gene | SETD5 |
is a | snp |
is | mentioned by |
dbSNP | rs587777325 |
dbSNP (classic) | rs587777325 |
ClinGen | rs587777325 |
ebi | rs587777325 |
HLI | rs587777325 |
Exac | rs587777325 |
Gnomad | rs587777325 |
Varsome | rs587777325 |
LitVar | rs587777325 |
Map | rs587777325 |
PheGenI | rs587777325 |
Biobank | rs587777325 |
1000 genomes | rs587777325 |
hgdp | rs587777325 |
ensembl | rs587777325 |
geneview | rs587777325 |
scholar | rs587777325 |
rs587777325 | |
pharmgkb | rs587777325 |
gwascentral | rs587777325 |
openSNP | rs587777325 |
23andMe | rs587777325 |
SNPshot | rs587777325 |
SNPdbe | rs587777325 |
MSV3d | rs587777325 |
GWAS Ctlg | rs587777325 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777325(T;T) |
Alt | rs587777325(T;T) |
Reference | Rs587777325(A;A) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SETD5 |
CLNDBN | Mental retardation, autosomal dominant 23 |
Reversed | 0 |
HGVS | NC_000003.11:g.9486739A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114960.2, |