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: rs1803274
rs1803274
BCHE
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.700 0
dbSNP: rs199660374
rs199660374
BCHE
1 1.000 0.160 3 165786202 missense variant G/A snv 3.6E-05 5.6E-05 0.800 1.000 3 1995 1999
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: rs121918556
rs121918556
BCHE
2 1.000 0.160 3 165786255 missense variant T/A snv 1.6E-05 3.5E-05 0.700 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: rs1553778017
rs1553778017
BCHE
1 1.000 0.160 3 165829537 stop gained C/T snv 0.700 0
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: rs1553778044
rs1553778044
BCHE
1 1.000 0.160 3 165829661 frameshift variant -/A delins 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: rs745364489
rs745364489
BCHE
1 1.000 0.160 3 165829794 missense variant G/A snv 4.0E-05 1.4E-05 0.800 1.000 4 2003 2012
dbSNP: rs1278095773
rs1278095773
BCHE
1 1.000 0.160 3 165829812 stop gained G/A snv 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: 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: rs770337031
rs770337031
BCHE
1 1.000 0.160 3 165829967 missense variant G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1553778114
rs1553778114
BCHE
1 1.000 0.160 3 165830004 stop gained G/A snv 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: rs115624085
rs115624085
BCHE
1 1.000 0.160 3 165830150 missense variant T/C snv 1.1E-04 1.4E-05 0.700 0
dbSNP: rs892642457
rs892642457
BCHE
1 1.000 0.160 3 165830202 missense variant T/G snv 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: rs1553778179
rs1553778179
BCHE
1 1.000 0.160 3 165830347 frameshift variant T/- del 0.700 0
dbSNP: rs370077923
rs370077923
BCHE
1 1.000 0.160 3 165830358 missense variant T/C snv 3.6E-05 9.1E-05 0.700 1.000 20 1989 2014
dbSNP: rs1553778185
rs1553778185
BCHE
1 1.000 0.160 3 165830372 frameshift variant G/- del 0.700 0
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
dbSNP: rs568724445
rs568724445
BCHE
1 1.000 0.160 3 165830419 stop gained C/A;T snv 5.2E-05 0.700 0
dbSNP: rs1553778198
rs1553778198
BCHE
1 1.000 0.160 3 165830423 frameshift variant T/- del 0.700 0