PAX7, paired box 7, 5081

N. diseases: 78; N. variants: 8
Disease: Cleft Palate ×
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: rs742071
rs742071 		0.925 0.120 1 18653380 intron variant G/T snv 0.39
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: rs9439713
rs9439713 		0.882 0.120 1 18646282 intron variant G/A snv 0.31
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: rs9439714
rs9439714 		0.882 0.120 1 18649995 intron variant T/C snv 0.28
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