rs397518479
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397518479(-;-) |
Make rs397518479(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 74744374 |
Gene | KIAA2022 |
is a | snp |
is | mentioned by |
dbSNP | rs397518479 |
dbSNP (classic) | rs397518479 |
ClinGen | rs397518479 |
ebi | rs397518479 |
HLI | rs397518479 |
Exac | rs397518479 |
Gnomad | rs397518479 |
Varsome | rs397518479 |
LitVar | rs397518479 |
Map | rs397518479 |
PheGenI | rs397518479 |
Biobank | rs397518479 |
1000 genomes | rs397518479 |
hgdp | rs397518479 |
ensembl | rs397518479 |
geneview | rs397518479 |
scholar | rs397518479 |
rs397518479 | |
pharmgkb | rs397518479 |
gwascentral | rs397518479 |
openSNP | rs397518479 |
23andMe | rs397518479 |
SNPshot | rs397518479 |
SNPdbe | rs397518479 |
MSV3d | rs397518479 |
GWAS Ctlg | rs397518479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518479(-;-) |
Alt | rs397518479(-;-) |
Reference | Rs397518479(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | KIAA2022 |
CLNDBN | Mental retardation, X-linked 98 |
Reversed | 1 |
HGVS | NC_000023.10:g.73964209delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074406.6, |