Source: BEFREE

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: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 1.000 1 2001 2001
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia
0.010 1.000 1 2001 2001
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia
0.010 1.000 1 2001 2001
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 1.000 1 2001 2001
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
0.040 1.000 4 2001 2002
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
0.040 1.000 4 2001 2002
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
0.010 1.000 1 2002 2002
dbSNP: rs72551363
rs72551363
0.882 0.080 3 12417048 missense variant T/A snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.010 1.000 1 2002 2002
dbSNP: rs121909244
rs121909244
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
0.010 1.000 1 2003 2003
dbSNP: rs121909244
rs121909244
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2003 2003
dbSNP: rs72551362
rs72551362
0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 1.000 1 2003 2003
dbSNP: rs121909244
rs121909244
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2004 2004
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 1.000 1 2004 2004
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 1.000 1 2004 2004
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 1.000 1 2004 2004
dbSNP: rs1805192
rs1805192
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 1.000 1 2004 2004
dbSNP: rs368726572
rs368726572
1.000 0.040 3 12392637 synonymous variant A/G snv 4.0E-06 3.5E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2004 2004
dbSNP: rs3856806
rs3856806
0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis
0.010 1.000 1 2004 2004
dbSNP: rs777334819
rs777334819
0.925 0.120 3 12379856 missense variant G/A snv 3.6E-05 2.1E-05
Diabetes Mellitus, Insulin-Dependent
0.010 < 0.001 1 2004 2004
dbSNP: rs121909244
rs121909244
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2005 2005
dbSNP: rs121909244
rs121909244
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
Diabetes Mellitus, Non-Insulin-Dependent
0.010 1.000 1 2005 2005
dbSNP: rs121909244
rs121909244
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy
0.010 1.000 1 2005 2005