Source: CURATED

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: rs1007859875
rs1007859875
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
HMBS
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
dbSNP: rs1555206128
rs1555206128
HMBS
1.000 0.160 11 119092417 inframe deletion AGTGCGAGCCAAGGACCAGGACATCTTGGA/- delins
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1565754285
rs1565754285
HMBS
1.000 0.160 11 119089094 frameshift variant C/- delins
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1565754296
rs1565754296
HMBS
1.000 0.160 11 119089098 frameshift variant -/G delins
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1565754452
rs1565754452
HMBS
1.000 0.160 11 119089216 splice acceptor variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1565754565
rs1565754565
HMBS
1.000 0.160 11 119089273 splice donor variant G/C snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1565756481
rs1565756481
HMBS
1.000 0.160 11 119091412 splice acceptor variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1565757839
rs1565757839
HMBS
1.000 0.160 11 119092480 frameshift variant CT/- delins
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0