Gene: LIX1L-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139428292
rs139428292
RBM8A ; LIX1L-AS1
T 0.710 CausalMutation CLINVAR Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. 28857120

2017
dbSNP: rs139428292
rs139428292
RBM8A ; LIX1L-AS1
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
dbSNP: rs139428292
rs139428292
RBM8A ; LIX1L-AS1
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
dbSNP: rs201779890
rs201779890
RBM8A ; LIX1L-AS1
G 0.700 CausalMutation CLINVAR Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. 28857120

2017
dbSNP: rs201779890
rs201779890
RBM8A ; LIX1L-AS1
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
dbSNP: rs397515388
rs397515388
RBM8A ; LIX1L-AS1
CCGCT 0.700 CausalMutation CLINVAR

dbSNP: rs397515389
rs397515389
RBM8A ; LIX1L-AS1
A 0.700 CausalMutation CLINVAR