APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Familial (FPAH) ×
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: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 1.000 6 1994 2012
dbSNP: rs12713559
rs12713559 		0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1995 1995
dbSNP: rs144467873
rs144467873 		0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2007 2007