Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553778044
rs1553778044
BCHE
1 1.000 0.160 3 165829661 frameshift variant -/A delins 0.700 0
dbSNP: rs781368801
rs781368801
BCHE
1 1.000 0.160 3 165830440 missense variant A/C snv 2.0E-05 2.1E-05 0.700 1.000 20 1989 2014
dbSNP: rs398124632
rs398124632
BCHE
1 1.000 0.160 3 165830599 frameshift variant A/CT delins 0.700 0
dbSNP: rs104893684
rs104893684
BCHE
1 1.000 0.160 3 165830030 missense variant A/G snv 2.6E-04 3.5E-05 0.800 1.000 20 1989 2014
dbSNP: rs769316835
rs769316835
BCHE
1 1.000 0.160 3 165829530 missense variant A/G snv 2.0E-04 4.9E-05 0.700 1.000 20 1989 2014
dbSNP: rs121918557
rs121918557
BCHE
2 0.925 0.160 3 165829962 missense variant A/T snv 8.8E-05 1.4E-05 0.800 1.000 22 1989 2014
dbSNP: rs531738678
rs531738678
BCHE
1 1.000 0.160 3 165830868 missense variant A/T snv 5.2E-05 4.9E-05 0.700 1.000 20 1989 2014
dbSNP: rs760485585
rs760485585
BCHE
1 1.000 0.160 3 165786245 stop gained A/T snv 6.4E-05 2.1E-05 0.700 1.000 3 1996 2015
dbSNP: rs762189020
rs762189020
BCHE
1 1.000 0.160 3 165830885 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs28933390
rs28933390
BCHE
2 1.000 0.160 3 165829781 missense variant C/A;G;T snv 3.1E-03; 4.0E-06; 4.0E-06 0.700 1.000 20 1989 2014
dbSNP: rs568724445
rs568724445
BCHE
1 1.000 0.160 3 165830419 stop gained C/A;T snv 5.2E-05 0.700 0
dbSNP: rs115129687
rs115129687
BCHE
1 1.000 0.160 3 165829857 missense variant C/G snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs979653503
rs979653503
BCHE
1 1.000 0.160 3 165830727 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs527843566
rs527843566
BCHE
2 1.000 0.160 3 165830526 missense variant C/G;T snv 4.0E-06; 5.6E-05 0.700 1.000 20 1989 2014
dbSNP: rs201820739
rs201820739
BCHE
1 1.000 0.160 3 165830606 missense variant C/T snv 2.8E-04 3.4E-04 0.800 1.000 22 1989 2014
dbSNP: rs200998515
rs200998515
BCHE
1 1.000 0.160 3 165829572 missense variant C/T snv 4.0E-05 2.8E-05 0.700 1.000 20 1989 2014
dbSNP: rs1553778017
rs1553778017
BCHE
1 1.000 0.160 3 165829537 stop gained C/T snv 0.700 0
dbSNP: rs1553778291
rs1553778291
BCHE
1 1.000 0.160 3 165830990 stop gained C/T snv 0.700 0
dbSNP: rs1803274
rs1803274
BCHE
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.700 0
dbSNP: rs1553778185
rs1553778185
BCHE
1 1.000 0.160 3 165830372 frameshift variant G/- del 0.700 0
dbSNP: rs28933389
rs28933389
BCHE
1 1.000 0.160 3 165830222 missense variant G/A snv 4.4E-04 5.6E-04 0.800 1.000 23 1989 2014
dbSNP: rs3732880
rs3732880
BCHE
1 1.000 0.160 3 165830652 missense variant G/A snv 4.0E-06 0.800 1.000 22 1989 2014
dbSNP: rs148170012
rs148170012
BCHE
1 1.000 0.160 3 165830841 missense variant G/A snv 8.0E-06 2.8E-05 0.700 1.000 20 1989 2014
dbSNP: rs1553778274
rs1553778274
BCHE
1 1.000 0.160 3 165830849 missense variant G/A snv 0.700 1.000 20 1989 2014
dbSNP: rs114706984
rs114706984
BCHE
1 1.000 0.160 3 165830399 missense variant G/A snv 2.1E-03 2.5E-03 0.700 1.000 4 1995 2016