rs863224888
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863224888(-;C) |
Make rs863224888(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 118506226 |
Gene | KMT2A |
is a | snp |
is | mentioned by |
dbSNP | rs863224888 |
dbSNP (classic) | rs863224888 |
ClinGen | rs863224888 |
ebi | rs863224888 |
HLI | rs863224888 |
Exac | rs863224888 |
Gnomad | rs863224888 |
Varsome | rs863224888 |
LitVar | rs863224888 |
Map | rs863224888 |
PheGenI | rs863224888 |
Biobank | rs863224888 |
1000 genomes | rs863224888 |
hgdp | rs863224888 |
ensembl | rs863224888 |
geneview | rs863224888 |
scholar | rs863224888 |
rs863224888 | |
pharmgkb | rs863224888 |
gwascentral | rs863224888 |
openSNP | rs863224888 |
23andMe | rs863224888 |
SNPshot | rs863224888 |
SNPdbe | rs863224888 |
MSV3d | rs863224888 |
GWAS Ctlg | rs863224888 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224888(C;C) |
Alt | rs863224888(C;C) |
Reference | Rs863224888(-;-) |
Significance | Pathogenic |
Disease | Wiedemann-Steiner syndrome |
Variation | info |
Gene | KMT2A |
CLNDBN | Wiedemann-Steiner syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.118376941dupC |
CLNSRC | |
CLNACC | RCV000196622.1, |