rs1060505029
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060505029(A;A) |
Make rs1060505029(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 109066220 |
Gene | TAF13 |
is a | snp |
is | mentioned by |
dbSNP | rs1060505029 |
dbSNP (classic) | rs1060505029 |
ClinGen | rs1060505029 |
ebi | rs1060505029 |
HLI | rs1060505029 |
Exac | rs1060505029 |
Gnomad | rs1060505029 |
Varsome | rs1060505029 |
LitVar | rs1060505029 |
Map | rs1060505029 |
PheGenI | rs1060505029 |
Biobank | rs1060505029 |
1000 genomes | rs1060505029 |
hgdp | rs1060505029 |
ensembl | rs1060505029 |
geneview | rs1060505029 |
scholar | rs1060505029 |
rs1060505029 | |
pharmgkb | rs1060505029 |
gwascentral | rs1060505029 |
openSNP | rs1060505029 |
23andMe | rs1060505029 |
SNPshot | rs1060505029 |
SNPdbe | rs1060505029 |
MSV3d | rs1060505029 |
GWAS Ctlg | rs1060505029 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060505029(A;A) |
Alt | rs1060505029(A;A) |
Reference | Rs1060505029(T;T) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | TAF13 |
CLNDBN | Mental retardation, autosomal recessive 60 |
Reversed | 1 |
HGVS | NC_000001.10:g.109608842A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477746.1, |