rs797045671
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045671(-;ACAACTGTGGCAGCAACAACAGGCAACAGCA) |
Make rs797045671(ACAACTGTGGCAGCAACAACAGGCAACAGCA;ACAACTGTGGCAGCAACAACAGGCAACAGCA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 49038880 |
Gene | KMT2D |
is a | snp |
is | mentioned by |
dbSNP | rs797045671 |
dbSNP (classic) | rs797045671 |
ClinGen | rs797045671 |
ebi | rs797045671 |
HLI | rs797045671 |
Exac | rs797045671 |
Gnomad | rs797045671 |
Varsome | rs797045671 |
LitVar | rs797045671 |
Map | rs797045671 |
PheGenI | rs797045671 |
Biobank | rs797045671 |
1000 genomes | rs797045671 |
hgdp | rs797045671 |
ensembl | rs797045671 |
geneview | rs797045671 |
scholar | rs797045671 |
rs797045671 | |
pharmgkb | rs797045671 |
gwascentral | rs797045671 |
openSNP | rs797045671 |
23andMe | rs797045671 |
SNPshot | rs797045671 |
SNPdbe | rs797045671 |
MSV3d | rs797045671 |
GWAS Ctlg | rs797045671 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045671(ACAACTGTGGCAGCAACAACAGGCAACAGCA;ACAACTGTGGCAGCAACAACAGGCAACAGCA) |
Alt | rs797045671(ACAACTGTGGCAGCAACAACAGGCAACAGCA;ACAACTGTGGCAGCAACAACAGGCAACAGCA) |
Reference | Rs797045671(-;-) |
Significance | Pathogenic |
Disease | Kabuki syndrome 1 |
Variation | info |
Gene | KMT2D |
CLNDBN | Kabuki syndrome 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.49432664_49432694dup31 |
CLNSRC | |
CLNACC | RCV000193150.1, |