rs786205227
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205227(C;T) |
Make rs786205227(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 52212726 |
Gene | PPP2R1A |
is a | snp |
is | mentioned by |
dbSNP | rs786205227 |
dbSNP (classic) | rs786205227 |
ClinGen | rs786205227 |
ebi | rs786205227 |
HLI | rs786205227 |
Exac | rs786205227 |
Gnomad | rs786205227 |
Varsome | rs786205227 |
LitVar | rs786205227 |
Map | rs786205227 |
PheGenI | rs786205227 |
Biobank | rs786205227 |
1000 genomes | rs786205227 |
hgdp | rs786205227 |
ensembl | rs786205227 |
geneview | rs786205227 |
scholar | rs786205227 |
rs786205227 | |
pharmgkb | rs786205227 |
gwascentral | rs786205227 |
openSNP | rs786205227 |
23andMe | rs786205227 |
SNPshot | rs786205227 |
SNPdbe | rs786205227 |
MSV3d | rs786205227 |
GWAS Ctlg | rs786205227 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205227(T;T) |
Alt | rs786205227(T;T) |
Reference | Rs786205227(C;C) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | PPP2R1A |
CLNDBN | Mental retardation, autosomal dominant 36 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.52715979C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170500.4, RCV000412854.1, |