rs757369209
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs757369209(C;T) |
Make rs757369209(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 43006514 |
Gene | MEA1, PPP2R5D |
is a | snp |
is | mentioned by |
dbSNP | rs757369209 |
dbSNP (classic) | rs757369209 |
ClinGen | rs757369209 |
ebi | rs757369209 |
HLI | rs757369209 |
Exac | rs757369209 |
Gnomad | rs757369209 |
Varsome | rs757369209 |
LitVar | rs757369209 |
Map | rs757369209 |
PheGenI | rs757369209 |
Biobank | rs757369209 |
1000 genomes | rs757369209 |
hgdp | rs757369209 |
ensembl | rs757369209 |
geneview | rs757369209 |
scholar | rs757369209 |
rs757369209 | |
pharmgkb | rs757369209 |
gwascentral | rs757369209 |
openSNP | rs757369209 |
23andMe | rs757369209 |
SNPshot | rs757369209 |
SNPdbe | rs757369209 |
MSV3d | rs757369209 |
GWAS Ctlg | rs757369209 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757369209(A;A) rs757369209(T;T) |
Alt | rs757369209(A;A) rs757369209(T;T) |
Reference | Rs757369209(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | PPP2R5D MEA1 |
CLNDBN | Mental retardation, autosomal dominant 35 |
Reversed | 0 |
HGVS | NC_000006.11:g.42974252C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201513.1, |