SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Hemifacial microsomia ×
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: rs281875208
rs281875208 		0.925 0.160 17 28404693 missense variant G/T snv 2.8E-05 4.2E-05
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2011 2012
dbSNP: rs281875209
rs281875209 		0.925 0.160 17 28404685 missense variant C/G;T snv 4.5E-04
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs281875211
rs281875211 		0.925 0.160 17 28402276 missense variant C/T snv 8.1E-06 2.8E-05
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs80338770
rs80338770 		0.925 0.160 17 28405360 missense variant G/A;T snv 5.1E-06
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80338774
rs80338774 		0.925 0.160 17 28400658 missense variant G/A;C snv
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012