Source: UNIPROT

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: rs104893684
rs104893684
BCHE
1.000 0.160 3 165830030 missense variant A/G snv 2.6E-04 3.5E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 20 1989 2014
dbSNP: rs121918557
rs121918557
BCHE
0.925 0.160 3 165829962 missense variant A/T snv 8.8E-05 1.4E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 20 1989 2014
dbSNP: rs121918558
rs121918558
BCHE
1.000 0.160 3 165830567 missense variant T/A;C;G snv 4.0E-06
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 20 1989 2014
dbSNP: rs1799807
rs1799807
BCHE
0.925 0.240 3 165830741 missense variant T/C snv 1.2E-02 1.2E-02
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 20 1957 2016
dbSNP: rs201820739
rs201820739
BCHE
1.000 0.160 3 165830606 missense variant C/T snv 2.8E-04 3.4E-04
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 20 1989 2014
dbSNP: rs28933389
rs28933389
BCHE
1.000 0.160 3 165830222 missense variant G/A snv 4.4E-04 5.6E-04
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 20 1989 2014
dbSNP: rs3732880
rs3732880
BCHE
1.000 0.160 3 165830652 missense variant G/A snv 4.0E-06
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 20 1989 2014
dbSNP: rs199660374
rs199660374
BCHE
1.000 0.160 3 165786202 missense variant G/A snv 3.6E-05 5.6E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 0 1995 1999
dbSNP: rs745364489
rs745364489
BCHE
1.000 0.160 3 165829794 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.800 1.000 0 2003 2012
dbSNP: rs121918556
rs121918556
BCHE
1.000 0.160 3 165786255 missense variant T/A snv 1.6E-05 3.5E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs148170012
rs148170012
BCHE
1.000 0.160 3 165830841 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs1553778274
rs1553778274
BCHE
1.000 0.160 3 165830849 missense variant G/A snv
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs200998515
rs200998515
BCHE
1.000 0.160 3 165829572 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs28933390
rs28933390
BCHE
1.000 0.160 3 165829781 missense variant C/A;G;T snv 3.1E-03; 4.0E-06; 4.0E-06
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs370077923
rs370077923
BCHE
1.000 0.160 3 165830358 missense variant T/C snv 3.6E-05 9.1E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs527843566
rs527843566
BCHE
1.000 0.160 3 165830526 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs531738678
rs531738678
BCHE
1.000 0.160 3 165830868 missense variant A/T snv 5.2E-05 4.9E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs747598704
rs747598704
BCHE
1.000 0.160 3 165830575 missense variant T/A;C snv 2.8E-05; 1.6E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs769316835
rs769316835
BCHE
1.000 0.160 3 165829530 missense variant A/G snv 2.0E-04 4.9E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs781368801
rs781368801
BCHE
1.000 0.160 3 165830440 missense variant A/C snv 2.0E-05 2.1E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 1.000 20 1989 2014
dbSNP: rs115129687
rs115129687
BCHE
1.000 0.160 3 165829857 missense variant C/G snv 1.2E-04 2.8E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0
dbSNP: rs115624085
rs115624085
BCHE
1.000 0.160 3 165830150 missense variant T/C snv 1.1E-04 1.4E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0
dbSNP: rs116097205
rs116097205
BCHE
1.000 0.160 3 165830852 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0
dbSNP: rs1339128583
rs1339128583
BCHE
1.000 0.160 3 165830664 missense variant T/A snv 7.0E-06
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0
dbSNP: rs1803274
rs1803274
BCHE
0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.700 0