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: rs57077886
rs57077886
LMNA
0.776 0.240 1 156114947 missense variant C/T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.710 1.000 1 2008 2008
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.050 1.000 5 2000 2018
dbSNP: rs121909244
rs121909244
PPARG
0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 1.000 2 2005 2010
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 0.500 2 2009 2014
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 0.500 2 2009 2014
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 1.000 2 2003 2005
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 1.000 2 2016 2017
dbSNP: rs587777606
rs587777606
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 1.000 2 2016 2019
dbSNP: rs119103267
rs119103267
MFN2
0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2017 2017
dbSNP: rs121912493
rs121912493
LMNA
0.925 0.080 1 156136374 missense variant G/A snv 2.1E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2000 2000
dbSNP: rs1270221130
rs1270221130
LMNA
1.000 0.080 1 156136075 missense variant A/G snv 4.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2005 2005
dbSNP: rs12964965
rs12964965
DLGAP1
0.925 0.080 18 3520557 intron variant T/C snv 0.33
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2008 2008
dbSNP: rs1800206
rs1800206
PPARA
0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 < 0.001 1 2012 2012
dbSNP: rs2813544
rs2813544
ESR1
0.925 0.080 6 152104447 intron variant A/G snv 0.22
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2012 2012
dbSNP: rs3020450
rs3020450
ESR2
0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2012 2012
dbSNP: rs397517892
rs397517892
LMNA
0.851 0.240 1 156136419 missense variant C/T snv 9.9E-06 1.4E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2005 2005
dbSNP: rs4986938
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2012 2012
dbSNP: rs56657623
rs56657623
LMNA
0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2000 2000
dbSNP: rs57318642
rs57318642
LMNA
0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2008 2008
dbSNP: rs7154455
rs7154455
ESR2
0.925 0.080 14 64269942 intron variant G/A;C snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2012 2012
dbSNP: rs72551362
rs72551362
PPARG
0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2005 2005
dbSNP: rs72551364
rs72551364
PPARG
0.851 0.160 3 12433900 missense variant C/T snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2005 2005
dbSNP: rs745386663
rs745386663
GLB1
0.807 0.160 3 33051956 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2016 2016
dbSNP: rs755686359
rs755686359
LMNA
0.925 0.080 1 156136311 missense variant C/T snv 1.6E-05 3.5E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.010 1.000 1 2014 2014