rs864321629
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mutation for an X-linked form of mental retardation, syndromic 33 |
(T;T) | 8.3 | Mental retardation, syndromic 33, X-linked |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71398627 |
Gene | TAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs864321629 |
dbSNP (classic) | rs864321629 |
ClinGen | rs864321629 |
ebi | rs864321629 |
HLI | rs864321629 |
Exac | rs864321629 |
Gnomad | rs864321629 |
Varsome | rs864321629 |
LitVar | rs864321629 |
Map | rs864321629 |
PheGenI | rs864321629 |
Biobank | rs864321629 |
1000 genomes | rs864321629 |
hgdp | rs864321629 |
ensembl | rs864321629 |
geneview | rs864321629 |
scholar | rs864321629 |
rs864321629 | |
pharmgkb | rs864321629 |
gwascentral | rs864321629 |
openSNP | rs864321629 |
23andMe | rs864321629 |
SNPshot | rs864321629 |
SNPdbe | rs864321629 |
MSV3d | rs864321629 |
GWAS Ctlg | rs864321629 |
Max Magnitude | 8.3 |
c.3736C>T (p.Arg1246Trp)
ClinVar | |
---|---|
Risk | Rs864321629(T;T) |
Alt | Rs864321629(T;T) |
Reference | Rs864321629(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | TAF1 |
CLNDBN | Mental retardation, X-linked, syndromic 33 |
Reversed | 0 |
HGVS | NC_000023.10:g.70618477C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203515.2, |