RBM8A, RNA binding motif protein 8A, 9939

N. diseases: 99; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139428292
rs139428292
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
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
dbSNP: rs139428292
rs139428292
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
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
dbSNP: rs139428292
rs139428292
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
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
dbSNP: rs139428292
rs139428292
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
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
dbSNP: rs139428292
rs139428292
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs201779890
rs201779890
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
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
dbSNP: rs201779890
rs201779890
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
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
dbSNP: rs397515388
rs397515388
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
Thrombocytopenia-Absent Radius Syndrome 		CCGCT 0.700 CausalMutation CLINVAR
dbSNP: rs397515389
rs397515389
Entrez Id: 9939;105371260
Gene Symbol: RBM8A;LIX1L-AS1
RBM8A;LIX1L-AS1
CUI: C0175703
Disease:
Thrombocytopenia-Absent Radius Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61746197
rs61746197
Entrez Id: 8799;9939;114814
Gene Symbol: PEX11B;RBM8A;GNRHR2
PEX11B;RBM8A;GNRHR2
CUI: C1405984
Disease:
Absent radius 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs61746197
rs61746197
Entrez Id: 8799;9939;114814
Gene Symbol: PEX11B;RBM8A;GNRHR2
PEX11B;RBM8A;GNRHR2
CUI: C0175703
Disease:
Thrombocytopenia-Absent Radius Syndrome 		C 0.700 GeneticVariation CLINVAR