rs587777406
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777406(A;C) |
Make rs587777406(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 686979 |
Gene | DEAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777406 |
dbSNP (classic) | rs587777406 |
ClinGen | rs587777406 |
ebi | rs587777406 |
HLI | rs587777406 |
Exac | rs587777406 |
Gnomad | rs587777406 |
Varsome | rs587777406 |
LitVar | rs587777406 |
Map | rs587777406 |
PheGenI | rs587777406 |
Biobank | rs587777406 |
1000 genomes | rs587777406 |
hgdp | rs587777406 |
ensembl | rs587777406 |
geneview | rs587777406 |
scholar | rs587777406 |
rs587777406 | |
pharmgkb | rs587777406 |
gwascentral | rs587777406 |
openSNP | rs587777406 |
23andMe | rs587777406 |
SNPshot | rs587777406 |
SNPdbe | rs587777406 |
MSV3d | rs587777406 |
GWAS Ctlg | rs587777406 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777406(A;A) rs587777406(C;C) |
Alt | Rs587777406(A;A) rs587777406(C;C) |
Reference | Rs587777406(T;T) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DEAF1 |
CLNDBN | Mental retardation, autosomal dominant 24 |
Reversed | 1 |
HGVS | NC_000011.9:g.686979A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000119804.4, |