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: rs1553778274
rs1553778274
BCHE
1 1.000 0.160 3 165830849 missense variant G/A snv 0.700 1.000 20 1989 2014
dbSNP: rs1278095773
rs1278095773
BCHE
1 1.000 0.160 3 165829812 stop gained G/A snv 0.700 0
dbSNP: rs1339128583
rs1339128583
BCHE
1 1.000 0.160 3 165830664 missense variant T/A snv 7.0E-06 0.700 0
dbSNP: rs1553778017
rs1553778017
BCHE
1 1.000 0.160 3 165829537 stop gained C/T snv 0.700 0
dbSNP: rs1553778044
rs1553778044
BCHE
1 1.000 0.160 3 165829661 frameshift variant -/A delins 0.700 0
dbSNP: rs1553778114
rs1553778114
BCHE
1 1.000 0.160 3 165830004 stop gained G/A snv 0.700 0
dbSNP: rs1553778179
rs1553778179
BCHE
1 1.000 0.160 3 165830347 frameshift variant T/- del 0.700 0
dbSNP: rs1553778185
rs1553778185
BCHE
1 1.000 0.160 3 165830372 frameshift variant G/- del 0.700 0
dbSNP: rs1553778198
rs1553778198
BCHE
1 1.000 0.160 3 165830423 frameshift variant T/- del 0.700 0
dbSNP: rs1553778291
rs1553778291
BCHE
1 1.000 0.160 3 165830990 stop gained C/T snv 0.700 0
dbSNP: rs398124632
rs398124632
BCHE
1 1.000 0.160 3 165830599 frameshift variant A/CT delins 0.700 0
dbSNP: rs892642457
rs892642457
BCHE
1 1.000 0.160 3 165830202 missense variant T/G snv 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: rs762189020
rs762189020
BCHE
1 1.000 0.160 3 165830885 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs990121358
rs990121358
BCHE
1 1.000 0.160 3 165830739 stop gained G/A;T snv 4.0E-06 0.700 0
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: rs121918558
rs121918558
BCHE
1 1.000 0.160 3 165830567 missense variant T/A;C;G snv 4.0E-06 0.800 1.000 20 1989 2014
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: 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: 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: 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: rs56309853
rs56309853
BCHE
1 1.000 0.160 3 165830879 missense variant G/A;T snv 1.7E-04; 1.2E-05 0.700 0
dbSNP: rs116097205
rs116097205
BCHE
1 1.000 0.160 3 165830852 missense variant T/C snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs747598704
rs747598704
BCHE
1 1.000 0.160 3 165830575 missense variant T/A;C snv 2.8E-05; 1.6E-05 0.700 1.000 20 1989 2014
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