GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Heterotaxy Syndrome ×
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: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2016 2017
dbSNP: rs121434422
rs121434422 		0.882 0.120 19 18869035 stop gained G/A;C;T snv
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs768027510
rs768027510 		1.000 0.120 19 18868666 frameshift variant AGAA/- delins 5.4E-06; 6.5E-05 4.9E-05
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0