RPS26, ribosomal protein S26, 6231

N. diseases: 38; N. variants: 11
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: rs267607023
rs267607023 		1.000 0.080 12 56042518 missense variant G/A snv
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 2 2010 2014
dbSNP: rs143951267
rs143951267 		1.000 0.080 12 56042167 start lost A/C;G;T snv
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2010 2015
dbSNP: rs1131017
rs1131017 		0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1131017
rs1131017 		0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1131017
rs1131017 		0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs705704
rs705704 		0.882 0.240 12 56041628 non coding transcript exon variant G/A snv 0.26
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs705704
rs705704 		0.882 0.240 12 56041628 non coding transcript exon variant G/A snv 0.26
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs705704
rs705704 		0.882 0.240 12 56041628 non coding transcript exon variant G/A snv 0.26
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs705704
rs705704 		0.882 0.240 12 56041628 non coding transcript exon variant G/A snv 0.26
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs705705
rs705705 		1.000 0.120 12 56041720 non coding transcript exon variant G/C snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs143951267
rs143951267 		1.000 0.080 12 56042167 start lost A/C;G;T snv
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.700 0
dbSNP: rs148622862
rs148622862 		1.000 0.080 12 56042170 splice donor variant G/A snv
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs148942765
rs148942765 		1.000 0.080 12 56043440 stop gained C/A;T snv 4.0E-06
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555208596
rs1555208596 		1.000 0.080 12 56043401 frameshift variant TG/- delins
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs786200892
rs786200892 		1.000 0.080 12 56042451 frameshift variant -/G delins
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs786203998
rs786203998 		1.000 0.080 12 56042423 splice acceptor variant A/T snv
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797045919
rs797045919 		1.000 0.080 12 56042476 stop gained C/T snv
CUI: C2750080
Disease: Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1131017
rs1131017 		0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1131017
rs1131017 		0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017