rs398123751
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GACAGCCC;GACAGCCC) | 0 | common in clinvar |
Make rs398123751(-;-) |
Make rs398123751(-;GACAGCCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 49042283 |
Gene | KMT2D |
is a | snp |
is | mentioned by |
dbSNP | rs398123751 |
dbSNP (classic) | rs398123751 |
ClinGen | rs398123751 |
ebi | rs398123751 |
HLI | rs398123751 |
Exac | rs398123751 |
Gnomad | rs398123751 |
Varsome | rs398123751 |
LitVar | rs398123751 |
Map | rs398123751 |
PheGenI | rs398123751 |
Biobank | rs398123751 |
1000 genomes | rs398123751 |
hgdp | rs398123751 |
ensembl | rs398123751 |
geneview | rs398123751 |
scholar | rs398123751 |
rs398123751 | |
pharmgkb | rs398123751 |
gwascentral | rs398123751 |
openSNP | rs398123751 |
23andMe | rs398123751 |
SNPshot | rs398123751 |
SNPdbe | rs398123751 |
MSV3d | rs398123751 |
GWAS Ctlg | rs398123751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123751(-;-) |
Alt | rs398123751(-;-) |
Reference | Rs398123751(GACAGCCC;GACAGCCC) |
Significance | Other |
Disease | not provided Kabuki syndrome 1 |
Variation | info |
Gene | KMT2D |
CLNDBN | not provided Kabuki syndrome 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.49436066_49436073delGGGCTGTC |
CLNSRC | ClinVar |
CLNACC | RCV000080195.3, RCV000172950.2, |