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: rs118204117
rs118204117
1.000 0.160 11 119092958 stop gained G/A;C snv 1.2E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.730 1.000 0 1994 2001
dbSNP: rs575222284
rs575222284
1.000 0.160 11 119091431 missense variant C/T snv 1.3E-05 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.730 1.000 0 1997 2006
dbSNP: rs118204100
rs118204100
1.000 0.160 11 119091507 stop gained G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.720 1.000 0 1994 2000
dbSNP: rs118204101
rs118204101
1.000 0.160 11 119091413 missense variant C/T snv 3.8E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.720 1.000 0 2000 2005
dbSNP: rs118204107
rs118204107
1.000 0.160 11 119089747 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.710 1.000 0 1999 1999
dbSNP: rs1261947877
rs1261947877
1.000 0.160 11 119092416 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.710 1.000 0 1998 1998
dbSNP: rs761004837
rs761004837
1.000 0.160 11 119089097 missense variant C/T snv 1.1E-04 4.9E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.710 1.000 0 2008 2008
dbSNP: rs974712040
rs974712040
1.000 0.160 11 119088651 missense variant C/T snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.710 1.000 0 2000 2000
dbSNP: rs1007859875
rs1007859875
1.000 0.160 11 119092137 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204097
rs118204097
1.000 0.160 11 119090230 stop gained C/T snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204103
rs118204103
1.000 0.160 11 119088298 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204104
rs118204104
1.000 0.160 11 119088638 missense variant G/A snv 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204105
rs118204105
1.000 0.160 11 119088647 missense variant C/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204106
rs118204106
1.000 0.160 11 119089084 missense variant G/T snv 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204108
rs118204108
1.000 0.160 11 119091444 missense variant T/G snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204110
rs118204110
1.000 0.160 11 119092419 stop gained G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204111
rs118204111
1.000 0.160 11 119092491 missense variant T/C snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204112
rs118204112
1.000 0.160 11 119092500 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204113
rs118204113
1.000 0.160 11 119092506 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204114
rs118204114
1.000 0.160 11 119092507 missense variant C/T snv 4.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204115
rs118204115
1.000 0.160 11 119092518 missense variant C/A;G snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204116
rs118204116
1.000 0.160 11 119092159 missense variant G/A;C snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204119
rs118204119
1.000 0.160 11 119089248 missense variant T/C snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs118204120
rs118204120
1.000 0.160 11 119090212 stop gained C/T snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0
dbSNP: rs1334178100
rs1334178100
1.000 0.160 11 119092768 missense variant G/A snv 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0