rs793888510
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs793888510(C;C) |
Make rs793888510(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 45089932 |
Gene | KDM6A |
is a | snp |
is | mentioned by |
dbSNP | rs793888510 |
dbSNP (classic) | rs793888510 |
ClinGen | rs793888510 |
ebi | rs793888510 |
HLI | rs793888510 |
Exac | rs793888510 |
Gnomad | rs793888510 |
Varsome | rs793888510 |
LitVar | rs793888510 |
Map | rs793888510 |
PheGenI | rs793888510 |
Biobank | rs793888510 |
1000 genomes | rs793888510 |
hgdp | rs793888510 |
ensembl | rs793888510 |
geneview | rs793888510 |
scholar | rs793888510 |
rs793888510 | |
pharmgkb | rs793888510 |
gwascentral | rs793888510 |
openSNP | rs793888510 |
23andMe | rs793888510 |
SNPshot | rs793888510 |
SNPdbe | rs793888510 |
MSV3d | rs793888510 |
GWAS Ctlg | rs793888510 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs793888510(C;C) |
Alt | rs793888510(C;C) |
Reference | Rs793888510(T;T) |
Significance | Probable-Pathogenic |
Disease | Kabuki syndrome 2 |
Variation | info |
Gene | KDM6A |
CLNDBN | Kabuki syndrome 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.44949177T>C |
CLNSRC | |
CLNACC | RCV000172946.1, |