rs139428292
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
T |
0.710 |
CausalMutation |
CLINVAR |
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.
|
28857120 |
2017 |
rs139428292
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
T |
0.710 |
CausalMutation |
CLINVAR |
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
|
24053387 |
2013 |
rs139428292
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
|
0.710 |
GeneticVariation |
BEFREE |
We concluded that compound inheritance of a rare null allele and one of the two low-frequency noncoding SNPs (rs139428292) in RBM8A are crucial for TAR syndrome.
|
24769264 |
2014 |
rs139428292
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
T |
0.710 |
CausalMutation |
CLINVAR |
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
|
22366785 |
2012 |
rs139428292
|
RBM8A;LIX1L-AS1
|
Uric acid measurement (procedure)
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
|
31578528 |
2019 |
rs201779890
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.
|
28857120 |
2017 |
rs201779890
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
|
22366785 |
2012 |
rs397515388
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
CCGCT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397515389
|
RBM8A;LIX1L-AS1
|
Thrombocytopenia-Absent Radius Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs61746197
|
PEX11B;RBM8A;GNRHR2
|
Absent radius
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs61746197
|
PEX11B;RBM8A;GNRHR2
|
Thrombocytopenia-Absent Radius Syndrome
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|