RPL6, ribosomal protein L6, 6128

N. diseases: 27; N. variants: 3
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: rs267606990
rs267606990 		0.851 0.240 12 112419116 missense variant C/T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 17 2001 2017
dbSNP: rs267606990
rs267606990 		0.851 0.240 12 112419116 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2003 2014
dbSNP: rs2233861
rs2233861 		12 112406194 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs267606990
rs267606990 		0.851 0.240 12 112419116 missense variant C/T snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs1214031315
rs1214031315 		0.882 0.040 12 112419123 splice region variant G/A snv
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1214031315
rs1214031315 		0.882 0.040 12 112419123 splice region variant G/A snv
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1214031315
rs1214031315 		0.882 0.040 12 112419123 splice region variant G/A snv
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs267606990
rs267606990 		0.851 0.240 12 112419116 missense variant C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009