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: rs1057521126
rs1057521126
1.000 0.160 11 119092785 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 1.000 20 1991 2015
dbSNP: rs118204095
rs118204095
1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.810 1.000 20 1991 2019
dbSNP: rs118204096
rs118204096
1.000 0.160 11 119091432 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.800 1.000 20 1991 2015
dbSNP: rs118204098
rs118204098
1.000 0.160 11 119090213 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.800 1.000 20 1991 2015
dbSNP: rs118204099
rs118204099
1.000 0.160 11 119092486 missense variant T/G snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.800 1.000 20 1991 2015
dbSNP: rs1205219549
rs1205219549
1.000 0.160 11 119092156 missense variant T/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.710 1.000 20 1991 2015
dbSNP: rs998842815
rs998842815
1.000 0.160 11 119088297 missense variant C/T snv 4.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 1.000 20 1991 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1555206128
rs1555206128
1.000 0.160 11 119092417 inframe deletion AGTGCGAGCCAAGGACCAGGACATCTTGGA/- delins
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.700 0