rs724159947
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs724159947(C;T) |
Make rs724159947(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 11869601 |
Gene | ETV6 |
is a | snp |
is | mentioned by |
dbSNP | rs724159947 |
dbSNP (classic) | rs724159947 |
ClinGen | rs724159947 |
ebi | rs724159947 |
HLI | rs724159947 |
Exac | rs724159947 |
Gnomad | rs724159947 |
Varsome | rs724159947 |
LitVar | rs724159947 |
Map | rs724159947 |
PheGenI | rs724159947 |
Biobank | rs724159947 |
1000 genomes | rs724159947 |
hgdp | rs724159947 |
ensembl | rs724159947 |
geneview | rs724159947 |
scholar | rs724159947 |
rs724159947 | |
pharmgkb | rs724159947 |
gwascentral | rs724159947 |
openSNP | rs724159947 |
23andMe | rs724159947 |
SNPshot | rs724159947 |
SNPdbe | rs724159947 |
MSV3d | rs724159947 |
GWAS Ctlg | rs724159947 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159947(T;T) |
Alt | rs724159947(T;T) |
Reference | Rs724159947(C;C) |
Significance | Pathogenic |
Disease | Hematologic neoplasm Thrombocytopenia Thrombocytopenia 5 |
Variation | info |
Gene | ETV6 |
CLNDBN | Hematologic neoplasm Thrombocytopenia Thrombocytopenia 5 |
Reversed | 0 |
HGVS | NC_000012.11:g.12022535C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149804.1, RCV000157611.6, |