rs863224895
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224895(C;C) |
Make rs863224895(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 118488623 |
Gene | KMT2A |
is a | snp |
is | mentioned by |
dbSNP | rs863224895 |
dbSNP (classic) | rs863224895 |
ClinGen | rs863224895 |
ebi | rs863224895 |
HLI | rs863224895 |
Exac | rs863224895 |
Gnomad | rs863224895 |
Varsome | rs863224895 |
LitVar | rs863224895 |
Map | rs863224895 |
PheGenI | rs863224895 |
Biobank | rs863224895 |
1000 genomes | rs863224895 |
hgdp | rs863224895 |
ensembl | rs863224895 |
geneview | rs863224895 |
scholar | rs863224895 |
rs863224895 | |
pharmgkb | rs863224895 |
gwascentral | rs863224895 |
openSNP | rs863224895 |
23andMe | rs863224895 |
SNPshot | rs863224895 |
SNPdbe | rs863224895 |
MSV3d | rs863224895 |
GWAS Ctlg | rs863224895 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224895(C;C) |
Alt | rs863224895(C;C) |
Reference | Rs863224895(T;T) |
Significance | Probable-Pathogenic |
Disease | Wiedemann-Steiner syndrome |
Variation | info |
Gene | KMT2A |
CLNDBN | Wiedemann-Steiner syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.118359338T>C |
CLNSRC | |
CLNACC | RCV000199053.1, |