GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Asplenia 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: rs121434422
rs121434422 		0.882 0.120 19 18869035 stop gained G/A;C;T snv
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs606231383
rs606231383 		1.000 0.120 19 18868806 frameshift variant -/G delins 2.1E-04 2.2E-04
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs753643819
rs753643819 		1.000 0.120 19 18868624 inframe deletion CAT/- del
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0