GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 ×
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: rs374016704
rs374016704 		0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2007 2017
dbSNP: rs1064793138
rs1064793138 		1.000 0.080 19 18868764 missense variant C/T snv 1.7E-05 2.1E-05
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0