rs121912500
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912500(A;A) |
Make rs121912500(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 34886941 |
Gene | RUNX1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912500 |
dbSNP (classic) | rs121912500 |
ClinGen | rs121912500 |
ebi | rs121912500 |
HLI | rs121912500 |
Exac | rs121912500 |
Gnomad | rs121912500 |
Varsome | rs121912500 |
LitVar | rs121912500 |
Map | rs121912500 |
PheGenI | rs121912500 |
Biobank | rs121912500 |
1000 genomes | rs121912500 |
hgdp | rs121912500 |
ensembl | rs121912500 |
geneview | rs121912500 |
scholar | rs121912500 |
rs121912500 | |
pharmgkb | rs121912500 |
gwascentral | rs121912500 |
openSNP | rs121912500 |
23andMe | rs121912500 |
SNPshot | rs121912500 |
SNPdbe | rs121912500 |
MSV3d | rs121912500 |
GWAS Ctlg | rs121912500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912500(A;A) |
Alt | rs121912500(A;A) |
Reference | Rs121912500(C;C) |
Significance | Pathogenic |
Disease | Transient myeloproliferative disorder of Down syndrome Leukemia |
Variation | info |
Gene | RUNX1 LOC101928210 |
CLNDBN | Transient myeloproliferative disorder of Down syndrome Leukemia, acute myeloid, m0 subtype |
Reversed | 1 |
HGVS | NC_000021.8:g.36259238G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015555.25, RCV000015556.24, |