rs797045646
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045646(-;TTTC) |
Make rs797045646(TTTC;TTTC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 74741784 |
Gene | KIAA2022 |
is a | snp |
is | mentioned by |
dbSNP | rs797045646 |
dbSNP (classic) | rs797045646 |
ClinGen | rs797045646 |
ebi | rs797045646 |
HLI | rs797045646 |
Exac | rs797045646 |
Gnomad | rs797045646 |
Varsome | rs797045646 |
LitVar | rs797045646 |
Map | rs797045646 |
PheGenI | rs797045646 |
Biobank | rs797045646 |
1000 genomes | rs797045646 |
hgdp | rs797045646 |
ensembl | rs797045646 |
geneview | rs797045646 |
scholar | rs797045646 |
rs797045646 | |
pharmgkb | rs797045646 |
gwascentral | rs797045646 |
openSNP | rs797045646 |
23andMe | rs797045646 |
SNPshot | rs797045646 |
SNPdbe | rs797045646 |
MSV3d | rs797045646 |
GWAS Ctlg | rs797045646 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045646(TTTC;TTTC) |
Alt | rs797045646(TTTC;TTTC) |
Reference | Rs797045646(-;-) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | KIAA2022 |
CLNDBN | Mental retardation, X-linked 98 |
Reversed | 1 |
HGVS | NC_000023.10:g.73961619_73961620insGAAA |
CLNSRC | |
CLNACC | RCV000193722.1, |