rs793888511
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs793888511(C;T) |
Make rs793888511(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 49032017 |
Gene | KMT2D |
is a | snp |
is | mentioned by |
dbSNP | rs793888511 |
dbSNP (classic) | rs793888511 |
ClinGen | rs793888511 |
ebi | rs793888511 |
HLI | rs793888511 |
Exac | rs793888511 |
Gnomad | rs793888511 |
Varsome | rs793888511 |
LitVar | rs793888511 |
Map | rs793888511 |
PheGenI | rs793888511 |
Biobank | rs793888511 |
1000 genomes | rs793888511 |
hgdp | rs793888511 |
ensembl | rs793888511 |
geneview | rs793888511 |
scholar | rs793888511 |
rs793888511 | |
pharmgkb | rs793888511 |
gwascentral | rs793888511 |
openSNP | rs793888511 |
23andMe | rs793888511 |
SNPshot | rs793888511 |
SNPdbe | rs793888511 |
MSV3d | rs793888511 |
GWAS Ctlg | rs793888511 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs793888511(T;T) |
Alt | rs793888511(T;T) |
Reference | Rs793888511(C;C) |
Significance | Probable-Pathogenic |
Disease | Kabuki syndrome 1 |
Variation | info |
Gene | KMT2D |
CLNDBN | Kabuki syndrome 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.49425800G>A |
CLNSRC | |
CLNACC | RCV000172947.1, |