rs398123700
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123700(A;A) |
Make rs398123700(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 49034067 |
Gene | KMT2D |
is a | snp |
is | mentioned by |
dbSNP | rs398123700 |
dbSNP (classic) | rs398123700 |
ClinGen | rs398123700 |
ebi | rs398123700 |
HLI | rs398123700 |
Exac | rs398123700 |
Gnomad | rs398123700 |
Varsome | rs398123700 |
LitVar | rs398123700 |
Map | rs398123700 |
PheGenI | rs398123700 |
Biobank | rs398123700 |
1000 genomes | rs398123700 |
hgdp | rs398123700 |
ensembl | rs398123700 |
geneview | rs398123700 |
scholar | rs398123700 |
rs398123700 | |
pharmgkb | rs398123700 |
gwascentral | rs398123700 |
openSNP | rs398123700 |
23andMe | rs398123700 |
SNPshot | rs398123700 |
SNPdbe | rs398123700 |
MSV3d | rs398123700 |
GWAS Ctlg | rs398123700 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123700(A;A) |
Alt | rs398123700(A;A) |
Reference | Rs398123700(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided Kabuki syndrome 1 |
Variation | info |
Gene | KMT2D |
CLNDBN | not provided Kabuki syndrome 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.49427850C>T |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000080102.3, RCV000177938.1, |