rs606231182
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CGCT;CGCT) | 0 | common in clinvar |
Make rs606231182(-;-) |
Make rs606231182(-;CGCT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 129829134 |
Gene | ZDHHC9 |
is a | snp |
is | mentioned by |
dbSNP | rs606231182 |
dbSNP (classic) | rs606231182 |
ClinGen | rs606231182 |
ebi | rs606231182 |
HLI | rs606231182 |
Exac | rs606231182 |
Gnomad | rs606231182 |
Varsome | rs606231182 |
LitVar | rs606231182 |
Map | rs606231182 |
PheGenI | rs606231182 |
Biobank | rs606231182 |
1000 genomes | rs606231182 |
hgdp | rs606231182 |
ensembl | rs606231182 |
geneview | rs606231182 |
scholar | rs606231182 |
rs606231182 | |
pharmgkb | rs606231182 |
gwascentral | rs606231182 |
openSNP | rs606231182 |
23andMe | rs606231182 |
SNPshot | rs606231182 |
SNPdbe | rs606231182 |
MSV3d | rs606231182 |
GWAS Ctlg | rs606231182 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231182(-;-) |
Alt | rs606231182(-;-) |
Reference | Rs606231182(CGCT;CGCT) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | ZDHHC9 |
CLNDBN | Mental retardation, X-linked, syndromic, raymond type |
Reversed | 1 |
HGVS | NC_000023.10:g.128963110_128963113delAGCG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011455.4, |