Source: ALL

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: rs104894100
rs104894100
AGPAT2
1.000 0.120 9 136673906 missense variant A/G snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.800 1.000 2 2002 2005
dbSNP: rs145975461
rs145975461
AGPAT2
1.000 0.120 9 136673873 missense variant G/A;C snv 8.4E-04; 4.3E-06; 4.3E-06
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 1.000 2 2002 2005
dbSNP: rs104894093
rs104894093
AGPAT2
1.000 0.120 9 136677537 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057517649
rs1057517649
AGPAT2
1.000 0.120 9 136677558 splice acceptor variant T/C snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057517650
rs1057517650
AGPAT2
1.000 0.120 9 136687175 splice donor variant C/T snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057517651
rs1057517651
AGPAT2
1.000 0.120 9 136677545 stop gained C/T snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057517653
rs1057517653
AGPAT2
1.000 0.120 9 136676635 frameshift variant C/- delins
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057517654
rs1057517654
AGPAT2
1.000 0.120 9 136674733 splice donor variant A/C snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057517655
rs1057517655
AGPAT2
1.000 0.120 9 136673913 stop gained G/A snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057517656
rs1057517656
AGPAT2
1.000 0.120 9 136673826 inframe deletion TCCTCATGG/- delins
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1057518714
rs1057518714
AGPAT2
1.000 0.120 9 136676670 stop gained C/T snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs116807569
rs116807569
AGPAT2
1.000 0.120 9 136674809 splice acceptor variant T/C snv 1.0E-04 4.2E-04
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs121908925
rs121908925
AGPAT2
1.000 0.120 9 136674753 stop gained T/A snv
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs121908926
rs121908926
AGPAT2
1.000 0.120 9 136676603 stop gained G/A;T snv 1.6E-05
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs138994150
rs138994150
AGPAT2
1.000 0.120 9 136674750 stop gained T/A snv 4.0E-04 1.0E-03
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1564290079
rs1564290079
AGPAT2
1.000 0.120 9 136674770 frameshift variant GGAGA/- delins
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs1564290914
rs1564290914
AGPAT2
1.000 0.120 9 136676660 frameshift variant G/- delins
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs200656731
rs200656731
AGPAT2
1.000 0.120 9 136673876 missense variant G/A;C snv 7.3E-05; 2.6E-05
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs387906355
rs387906355
AGPAT2
1.000 0.120 9 136677075 frameshift variant -/A delins 8.0E-06 7.7E-05
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs387906356
rs387906356
AGPAT2
1.000 0.120 9 136677033 inframe deletion AGA/- delins 7.0E-06
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs606231168
rs606231168
AGPAT2
0.925 0.120 9 136676681 splice acceptor variant C/G snv 4.0E-06 7.0E-06
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs606231168
rs606231168
AGPAT2
0.925 0.120 9 136676681 splice acceptor variant C/G snv 4.0E-06 7.0E-06
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.700 0
dbSNP: rs748157664
rs748157664
AGPAT2
1.000 0.120 9 136676659 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0
dbSNP: rs764260414
rs764260414
AGPAT2
0.925 0.120 9 136677440 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.700 0
dbSNP: rs764260414
rs764260414
AGPAT2
0.925 0.120 9 136677440 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.700 0