RBM8A, RNA binding motif protein 8A, 9939

N. diseases: 99; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs139428292
rs139428292 		1.000 0.120 1 145927447 5 prime UTR variant C/A;T snv 4.2E-06; 1.8E-02
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.710 1.000 4 2012 2017
dbSNP: rs201779890
rs201779890 		1.000 0.120 1 145927328 non coding transcript exon variant C/G snv 5.5E-03 5.1E-03
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2012 2017
dbSNP: rs139428292
rs139428292 		1.000 0.120 1 145927447 5 prime UTR variant C/A;T snv 4.2E-06; 1.8E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs397515388
rs397515388 		1.000 0.120 1 145926616 frameshift variant -/CGCT ins
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397515389
rs397515389 		1.000 0.120 1 145925920 stop gained G/A snv
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61746197
rs61746197 		0.925 0.120 1 145919695 non coding transcript exon variant T/C snv 5.6E-03 5.0E-03
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61746197
rs61746197 		0.925 0.120 1 145919695 non coding transcript exon variant T/C snv 5.6E-03 5.0E-03
CUI: C1405984
Disease: Absent radius
Absent radius 		0.700 0