rs122445101
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs122445101(A;A) |
Make rs122445101(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 77558781 |
Gene | ATRX |
is a | snp |
is | mentioned by |
dbSNP | rs122445101 |
dbSNP (classic) | rs122445101 |
ClinGen | rs122445101 |
ebi | rs122445101 |
HLI | rs122445101 |
Exac | rs122445101 |
Gnomad | rs122445101 |
Varsome | rs122445101 |
LitVar | rs122445101 |
Map | rs122445101 |
PheGenI | rs122445101 |
Biobank | rs122445101 |
1000 genomes | rs122445101 |
hgdp | rs122445101 |
ensembl | rs122445101 |
geneview | rs122445101 |
scholar | rs122445101 |
rs122445101 | |
pharmgkb | rs122445101 |
gwascentral | rs122445101 |
openSNP | rs122445101 |
23andMe | rs122445101 |
SNPshot | rs122445101 |
SNPdbe | rs122445101 |
MSV3d | rs122445101 |
GWAS Ctlg | rs122445101 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122445101(A;A) |
Alt | rs122445101(A;A) |
Reference | Rs122445101(G;G) |
Significance | Pathogenic |
Disease | Mental retardation-hypotonic facies syndrome ATR-X syndrome Mental retardation-hypotonic facies syndrome X-linked |
Variation | info |
Gene | ATRX |
CLNDBN | Mental retardation-hypotonic facies syndrome, X-linked ATR-X syndrome Mental retardation-hypotonic facies syndrome X-linked, 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.76814252C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012497.24, RCV000199096.1, |