rs398122909
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122909(A;A) |
Make rs398122909(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 72462051 |
Gene | HDAC8 |
is a | snp |
is | mentioned by |
dbSNP | rs398122909 |
dbSNP (classic) | rs398122909 |
ClinGen | rs398122909 |
ebi | rs398122909 |
HLI | rs398122909 |
Exac | rs398122909 |
Gnomad | rs398122909 |
Varsome | rs398122909 |
LitVar | rs398122909 |
Map | rs398122909 |
PheGenI | rs398122909 |
Biobank | rs398122909 |
1000 genomes | rs398122909 |
hgdp | rs398122909 |
ensembl | rs398122909 |
geneview | rs398122909 |
scholar | rs398122909 |
rs398122909 | |
pharmgkb | rs398122909 |
gwascentral | rs398122909 |
openSNP | rs398122909 |
23andMe | rs398122909 |
SNPshot | rs398122909 |
SNPdbe | rs398122909 |
MSV3d | rs398122909 |
GWAS Ctlg | rs398122909 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122909(A;A) |
Alt | rs398122909(A;A) |
Reference | Rs398122909(G;G) |
Significance | Pathogenic |
Disease | Cornelia de Lange syndrome 5 not specified |
Variation | info |
Gene | HDAC8 |
CLNDBN | Cornelia de Lange syndrome 5 not specified |
Reversed | 1 |
HGVS | NC_000023.10:g.71681901C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032918.11, RCV000211117.1, |