rs587783679
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783679(G;T) |
Make rs587783679(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 118503723 |
Gene | KMT2A |
is a | snp |
is | mentioned by |
dbSNP | rs587783679 |
dbSNP (classic) | rs587783679 |
ClinGen | rs587783679 |
ebi | rs587783679 |
HLI | rs587783679 |
Exac | rs587783679 |
Gnomad | rs587783679 |
Varsome | rs587783679 |
LitVar | rs587783679 |
Map | rs587783679 |
PheGenI | rs587783679 |
Biobank | rs587783679 |
1000 genomes | rs587783679 |
hgdp | rs587783679 |
ensembl | rs587783679 |
geneview | rs587783679 |
scholar | rs587783679 |
rs587783679 | |
pharmgkb | rs587783679 |
gwascentral | rs587783679 |
openSNP | rs587783679 |
23andMe | rs587783679 |
SNPshot | rs587783679 |
SNPdbe | rs587783679 |
MSV3d | rs587783679 |
GWAS Ctlg | rs587783679 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783679(T;T) |
Alt | rs587783679(T;T) |
Reference | Rs587783679(G;G) |
Significance | Pathogenic |
Disease | Wiedemann-Steiner syndrome |
Variation | info |
Gene | KMT2A |
CLNDBN | Wiedemann-Steiner syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.118374438G>T |
CLNSRC | |
CLNACC | RCV000146144.1, |