rs587777412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777412(-;A) |
Make rs587777412(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 41225543 |
Gene | CTNNB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777412 |
dbSNP (classic) | rs587777412 |
ClinGen | rs587777412 |
ebi | rs587777412 |
HLI | rs587777412 |
Exac | rs587777412 |
Gnomad | rs587777412 |
Varsome | rs587777412 |
LitVar | rs587777412 |
Map | rs587777412 |
PheGenI | rs587777412 |
Biobank | rs587777412 |
1000 genomes | rs587777412 |
hgdp | rs587777412 |
ensembl | rs587777412 |
geneview | rs587777412 |
scholar | rs587777412 |
rs587777412 | |
pharmgkb | rs587777412 |
gwascentral | rs587777412 |
openSNP | rs587777412 |
23andMe | rs587777412 |
SNPshot | rs587777412 |
SNPdbe | rs587777412 |
MSV3d | rs587777412 |
GWAS Ctlg | rs587777412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777412(A;A) |
Alt | rs587777412(A;A) |
Reference | Rs587777412(-;-) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | CTNNB1 |
CLNDBN | Mental retardation, autosomal dominant 19 |
Reversed | 0 |
HGVS | NC_000003.11:g.41267034dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119827.3, |