Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912685
rs121912685
AFP
1.000 0.080 4 73442356 stop gained G/A snv 1.6E-05 7.7E-05
CUI: C1863081
Disease: alpha-Fetoprotein Deficiency
alpha-Fetoprotein Deficiency 		0.700 0
dbSNP: rs387906580
rs387906580
AFP
1.000 0.080 4 73447499 frameshift variant CT/- delins
CUI: C1863081
Disease: alpha-Fetoprotein Deficiency
alpha-Fetoprotein Deficiency 		0.700 0
dbSNP: rs587776861
rs587776861
AFP
4 73436100 intron variant G/A snv 7.0E-06
CUI: C1863080
Disease: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF
ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF 		0.700 0