rs1060499626
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060499626(C;T) |
Make rs1060499626(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 180034 |
Gene | ZMYND11 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499626 |
dbSNP (classic) | rs1060499626 |
ClinGen | rs1060499626 |
ebi | rs1060499626 |
HLI | rs1060499626 |
Exac | rs1060499626 |
Gnomad | rs1060499626 |
Varsome | rs1060499626 |
LitVar | rs1060499626 |
Map | rs1060499626 |
PheGenI | rs1060499626 |
Biobank | rs1060499626 |
1000 genomes | rs1060499626 |
hgdp | rs1060499626 |
ensembl | rs1060499626 |
geneview | rs1060499626 |
scholar | rs1060499626 |
rs1060499626 | |
pharmgkb | rs1060499626 |
gwascentral | rs1060499626 |
openSNP | rs1060499626 |
23andMe | rs1060499626 |
SNPshot | rs1060499626 |
SNPdbe | rs1060499626 |
MSV3d | rs1060499626 |
GWAS Ctlg | rs1060499626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499626(T;T) |
Alt | rs1060499626(T;T) |
Reference | Rs1060499626(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | ZMYND11 |
CLNDBN | Mental retardation, autosomal dominant 30 |
Reversed | 0 |
HGVS | NC_000010.10:g.225974C>T |
CLNSRC | |
CLNACC | RCV000445592.1, |