rs397518478
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397518478(-;A) |
Make rs397518478(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 74740959 |
Gene | KIAA2022 |
is a | snp |
is | mentioned by |
dbSNP | rs397518478 |
dbSNP (classic) | rs397518478 |
ClinGen | rs397518478 |
ebi | rs397518478 |
HLI | rs397518478 |
Exac | rs397518478 |
Gnomad | rs397518478 |
Varsome | rs397518478 |
LitVar | rs397518478 |
Map | rs397518478 |
PheGenI | rs397518478 |
Biobank | rs397518478 |
1000 genomes | rs397518478 |
hgdp | rs397518478 |
ensembl | rs397518478 |
geneview | rs397518478 |
scholar | rs397518478 |
rs397518478 | |
pharmgkb | rs397518478 |
gwascentral | rs397518478 |
openSNP | rs397518478 |
23andMe | rs397518478 |
SNPshot | rs397518478 |
SNPdbe | rs397518478 |
MSV3d | rs397518478 |
GWAS Ctlg | rs397518478 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518478(A;A) |
Alt | rs397518478(A;A) |
Reference | Rs397518478(-;-) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | KIAA2022 |
CLNDBN | Mental retardation, X-linked 98 |
Reversed | 1 |
HGVS | NC_000023.10:g.73960795dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074404.2, |