Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Familial Partial Lipodystrophy, Type 2
23 0.715 0.321 1 156136985 missense variant G/A,T snp 0.800 9 2000 2013
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
4 0.715 0.321 1 156136985 missense variant G/A,T snp 0.700 5 2000 2013
Hereditary Motor and Sensory-Neuropathy Type II
69 0.715 0.321 1 156136985 missense variant G/A,T snp 0.700 5 2000 2017
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
14 0.715 0.321 1 156136985 missense variant G/A,T snp 0.080 1.000 8 2000 2013
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
19 0.715 0.321 1 156136985 missense variant G/A,T snp 0.040 0.750 4 2000 2013
Acquired partial lipodystrophy
CUI: C0220989
Disease: Acquired partial lipodystrophy
14 0.715 0.321 1 156136985 missense variant G/A,T snp 0.030 1.000 3 2000 2000
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
33 0.715 0.321 1 156136985 missense variant G/A,T snp 0.030 1.000 3 2000 2001
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
48 0.715 0.321 1 156136985 missense variant G/A,T snp 0.020 1.000 2 2001 2001
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
447 0.715 0.321 1 156136985 missense variant G/A,T snp 0.020 1.000 2 2000 2013
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
3 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2013 2013
Diabetes
CUI: C0011847
Disease: Diabetes
349 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2000 2000
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
440 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2000 2000
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
26 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2013 2013
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
62 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2001 2001
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
12 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2003 2003
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
181 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2008 2008
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
13 0.715 0.321 1 156136985 missense variant G/A,T snp 0.010 1.000 1 2011 2011