rs876661308
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs876661308(A;T) |
Make rs876661308(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 88823780 |
Gene | MEF2C |
is a | snp |
is | mentioned by |
dbSNP | rs876661308 |
dbSNP (classic) | rs876661308 |
ClinGen | rs876661308 |
ebi | rs876661308 |
HLI | rs876661308 |
Exac | rs876661308 |
Gnomad | rs876661308 |
Varsome | rs876661308 |
LitVar | rs876661308 |
Map | rs876661308 |
PheGenI | rs876661308 |
Biobank | rs876661308 |
1000 genomes | rs876661308 |
hgdp | rs876661308 |
ensembl | rs876661308 |
geneview | rs876661308 |
scholar | rs876661308 |
rs876661308 | |
pharmgkb | rs876661308 |
gwascentral | rs876661308 |
openSNP | rs876661308 |
23andMe | rs876661308 |
SNPshot | rs876661308 |
SNPdbe | rs876661308 |
MSV3d | rs876661308 |
GWAS Ctlg | rs876661308 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661308(T;T) |
Alt | rs876661308(T;T) |
Reference | Rs876661308(A;A) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | MEF2C |
CLNDBN | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations |
Reversed | 1 |
HGVS | NC_000005.9:g.88119597T>A |
CLNSRC | |
CLNACC | RCV000223956.1, |