rs587783676
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs587783676(-;-) |
Make rs587783676(-;GA) |
Make rs587783676(GA;GA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 118473832 |
Gene | KMT2A |
is a | snp |
is | mentioned by |
dbSNP | rs587783676 |
dbSNP (classic) | rs587783676 |
ClinGen | rs587783676 |
ebi | rs587783676 |
HLI | rs587783676 |
Exac | rs587783676 |
Gnomad | rs587783676 |
Varsome | rs587783676 |
LitVar | rs587783676 |
Map | rs587783676 |
PheGenI | rs587783676 |
Biobank | rs587783676 |
1000 genomes | rs587783676 |
hgdp | rs587783676 |
ensembl | rs587783676 |
geneview | rs587783676 |
scholar | rs587783676 |
rs587783676 | |
pharmgkb | rs587783676 |
gwascentral | rs587783676 |
openSNP | rs587783676 |
23andMe | rs587783676 |
SNPshot | rs587783676 |
SNPdbe | rs587783676 |
MSV3d | rs587783676 |
GWAS Ctlg | rs587783676 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783676(-;-) |
Alt | rs587783676(-;-) |
Reference | Rs587783676(AG;AG) |
Significance | Pathogenic |
Disease | Wiedemann-Steiner syndrome |
Variation | info |
Gene | KMT2A |
CLNDBN | Wiedemann-Steiner syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.118344547_118344548delGA |
CLNSRC | |
CLNACC | RCV000146137.1, |