rs869320691
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs869320691(A;A) |
Make rs869320691(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 43007292 |
Gene | MEA1, PPP2R5D |
is a | snp |
is | mentioned by |
dbSNP | rs869320691 |
dbSNP (classic) | rs869320691 |
ClinGen | rs869320691 |
ebi | rs869320691 |
HLI | rs869320691 |
Exac | rs869320691 |
Gnomad | rs869320691 |
Varsome | rs869320691 |
LitVar | rs869320691 |
Map | rs869320691 |
PheGenI | rs869320691 |
Biobank | rs869320691 |
1000 genomes | rs869320691 |
hgdp | rs869320691 |
ensembl | rs869320691 |
geneview | rs869320691 |
scholar | rs869320691 |
rs869320691 | |
pharmgkb | rs869320691 |
gwascentral | rs869320691 |
openSNP | rs869320691 |
23andMe | rs869320691 |
SNPshot | rs869320691 |
SNPdbe | rs869320691 |
MSV3d | rs869320691 |
GWAS Ctlg | rs869320691 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320691(A;A) rs869320691(C;C) |
Alt | rs869320691(A;A) rs869320691(C;C) |
Reference | Rs869320691(T;T) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | PPP2R5D MEA1 |
CLNDBN | Mental retardation, autosomal dominant 35 not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.42975030T>A; NC_000006.11:g.42975030T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201477.1, RCV000307513.1, |