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: rs2645424
rs2645424
FDFT1
0.827 0.120 8 11826954 intron variant A/C;G snv 0.56
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.820 1.000 1 2010 2014
dbSNP: rs1563290033
rs1563290033
FDFT1 ; LOC105379243
1.000 8 11802586 intron variant CTTCCTAGTGTGAGCG/- del
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		0.700 1.000 1 2018 2018
dbSNP: rs1563339323
rs1563339323
FDFT1
1.000 8 11831494 intron variant TC/AG mnv
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		0.700 1.000 1 2018 2018
dbSNP: rs1616534
rs1616534
FDFT1
8 11808942 intron variant C/G;T snv 9.8E-06; 0.58
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1736060
rs1736060
FDFT1
8 11807229 intron variant C/G;T snv 0.54
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2645424
rs2645424
FDFT1
0.827 0.120 8 11826954 intron variant A/C;G snv 0.56
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.700 1.000 1 2010 2010
dbSNP: rs6601615
rs6601615
FDFT1
8 11835345 intron variant C/T snv 1.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6601615
rs6601615
FDFT1
8 11835345 intron variant C/T snv 1.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012