rs587783749
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587783749(-;-) |
Make rs587783749(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 88730212 |
Gene | MEF2C |
is a | snp |
is | mentioned by |
dbSNP | rs587783749 |
dbSNP (classic) | rs587783749 |
ClinGen | rs587783749 |
ebi | rs587783749 |
HLI | rs587783749 |
Exac | rs587783749 |
Gnomad | rs587783749 |
Varsome | rs587783749 |
LitVar | rs587783749 |
Map | rs587783749 |
PheGenI | rs587783749 |
Biobank | rs587783749 |
1000 genomes | rs587783749 |
hgdp | rs587783749 |
ensembl | rs587783749 |
geneview | rs587783749 |
scholar | rs587783749 |
rs587783749 | |
pharmgkb | rs587783749 |
gwascentral | rs587783749 |
openSNP | rs587783749 |
23andMe | rs587783749 |
SNPshot | rs587783749 |
SNPdbe | rs587783749 |
MSV3d | rs587783749 |
GWAS Ctlg | rs587783749 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783749(-;-) |
Alt | rs587783749(-;-) |
Reference | Rs587783749(T;T) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | MEF2C |
CLNDBN | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.88026029delA |
CLNSRC | |
CLNACC | RCV000146367.1, RCV000255477.1, |