HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 457; N. variants: 23
Disease: Costello syndrome (disorder) ×
Source: BEFREE ×
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: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 1.000 14 2005 2018
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.840 1.000 4 1990 2019
dbSNP: rs104894228
rs104894228 		0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.830 1.000 3 2005 2017
dbSNP: rs121917757
rs121917757 		0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 2 2007 2015
dbSNP: rs104894226
rs104894226 		0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 1 2005 2017
dbSNP: rs104894227
rs104894227 		1.000 0.080 11 533553 missense variant T/C snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 1 2005 2018
dbSNP: rs121917758
rs121917758 		0.851 0.160 11 533883 missense variant G/A snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 1 2005 2016
dbSNP: rs727503094
rs727503094 		0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.750 1.000 5 2006 2019
dbSNP: rs121917756
rs121917756 		0.925 0.120 11 533869 missense variant C/T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2007 2007
dbSNP: rs730880460
rs730880460 		0.882 0.120 11 533877 missense variant C/A;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2015 2017