rs122445102
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs122445102(C;T) |
Make rs122445102(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 77633210 |
Gene | ATRX |
is a | snp |
is | mentioned by |
dbSNP | rs122445102 |
dbSNP (classic) | rs122445102 |
ClinGen | rs122445102 |
ebi | rs122445102 |
HLI | rs122445102 |
Exac | rs122445102 |
Gnomad | rs122445102 |
Varsome | rs122445102 |
LitVar | rs122445102 |
Map | rs122445102 |
PheGenI | rs122445102 |
Biobank | rs122445102 |
1000 genomes | rs122445102 |
hgdp | rs122445102 |
ensembl | rs122445102 |
geneview | rs122445102 |
scholar | rs122445102 |
rs122445102 | |
pharmgkb | rs122445102 |
gwascentral | rs122445102 |
openSNP | rs122445102 |
23andMe | rs122445102 |
SNPshot | rs122445102 |
SNPdbe | rs122445102 |
MSV3d | rs122445102 |
GWAS Ctlg | rs122445102 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122445102(T;T) |
Alt | rs122445102(T;T) |
Reference | Rs122445102(C;C) |
Significance | Pathogenic |
Disease | Mental retardation-hypotonic facies syndrome |
Variation | info |
Gene | ATRX |
CLNDBN | Mental retardation-hypotonic facies syndrome, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.76888698G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012498.24, |