rs587776806
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
(G;G) | 0 | common in clinvar |
Make rs587776806(-;TCTG) |
Make rs587776806(TCTG;TCTG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 171410543 |
Gene | NPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776806 |
dbSNP (classic) | rs587776806 |
ClinGen | rs587776806 |
ebi | rs587776806 |
HLI | rs587776806 |
Exac | rs587776806 |
Gnomad | rs587776806 |
Varsome | rs587776806 |
LitVar | rs587776806 |
Map | rs587776806 |
PheGenI | rs587776806 |
Biobank | rs587776806 |
1000 genomes | rs587776806 |
hgdp | rs587776806 |
ensembl | rs587776806 |
geneview | rs587776806 |
scholar | rs587776806 |
rs587776806 | |
pharmgkb | rs587776806 |
gwascentral | rs587776806 |
openSNP | rs587776806 |
23andMe | rs587776806 |
SNPshot | rs587776806 |
SNPdbe | rs587776806 |
MSV3d | rs587776806 |
GWAS Ctlg | rs587776806 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776806(CATG;CATG) rs587776806(CCTG;CCTG) rs587776806(CGTG;CGTG) rs587776806(TCTG;TCTG) |
Alt | rs587776806(CATG;CATG) rs587776806(CCTG;CCTG) rs587776806(CGTG;CGTG) rs587776806(TCTG;TCTG) |
Reference | Rs587776806(-;-) |
Significance | Pathogenic |
Disease | Acute myeloid leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia |
Variation | info |
Gene | NPM1 |
CLNDBN | Acute myeloid leukemia Myelodysplastic syndrome progressed to acute myeloid leukemia |
Reversed | 0 |
HGVS | NC_000005.9:g.170837544_170837547dupTCTG; NC_000005.9:g.170837547_170837548insCATG; NC_000005.9:g.170837547_170837548insCCTG; NC_000005.9:g.170837547_170837548insCGTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015035.23, RCV000203461.1, RCV000015036.25, RCV000015038.26, RCV000015037.26, |