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: rs541978825
rs541978825
AGPAT2
1.000 0.080 9 136676673 missense variant A/G snv 2.4E-05
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.010 1.000 1 2018 2018
dbSNP: rs563539429
rs563539429
AGPAT2
0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2013 2013
dbSNP: rs563539429
rs563539429
AGPAT2
0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.010 1.000 1 2013 2013
dbSNP: rs563539429
rs563539429
AGPAT2
0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs563539429
rs563539429
AGPAT2
0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2013 2013
dbSNP: rs563539429
rs563539429
AGPAT2
0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.010 1.000 1 2018 2018
dbSNP: rs886063722
rs886063722
AGPAT2
1.000 0.080 9 136677118 missense variant G/A snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2011 2011