rs765417606
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs765417606(A;G) |
Make rs765417606(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71124263 |
Gene | MED12 |
is a | snp |
is | mentioned by |
dbSNP | rs765417606 |
dbSNP (classic) | rs765417606 |
ClinGen | rs765417606 |
ebi | rs765417606 |
HLI | rs765417606 |
Exac | rs765417606 |
Gnomad | rs765417606 |
Varsome | rs765417606 |
LitVar | rs765417606 |
Map | rs765417606 |
PheGenI | rs765417606 |
Biobank | rs765417606 |
1000 genomes | rs765417606 |
hgdp | rs765417606 |
ensembl | rs765417606 |
geneview | rs765417606 |
scholar | rs765417606 |
rs765417606 | |
pharmgkb | rs765417606 |
gwascentral | rs765417606 |
openSNP | rs765417606 |
23andMe | rs765417606 |
SNPshot | rs765417606 |
SNPdbe | rs765417606 |
MSV3d | rs765417606 |
GWAS Ctlg | rs765417606 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765417606(G;G) |
Alt | rs765417606(G;G) |
Reference | Rs765417606(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified FG syndrome Ohdo syndrome X-linked mental retardation with marfanoid habitus syndrome not provided |
Variation | info |
Gene | MED12 |
CLNDBN | not specified FG syndrome Ohdo syndrome, X-linked X-linked mental retardation with marfanoid habitus syndrome not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.70344113A>G |
CLNSRC | |
CLNACC | RCV000196612.2, RCV000199251.1, RCV000224083.1, |