Source: ALL

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: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.100 0.900 10 1991 2014
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
Hyperkeratosis lenticularis perstans
0.020 1.000 2 1996 2006
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
0.010 1.000 1 2006 2006
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 1.000 1 2014 2014
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.010 1.000 1 2000 2000
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 1.000 1 2009 2009
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.010 1.000 1 1995 1995
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias
0.010 1.000 1 2000 2000
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 1.000 1 1998 1998