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: rs1439645986
rs1439645986
EPHA3
1 3 89210518 missense variant A/G snv 5.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs121909749
rs121909749
GLRB
2 1.000 4 157143807 missense variant G/A snv 0.700 0
dbSNP: rs281864922
rs281864922
GLRB
2 1.000 4 157136891 splice region variant G/A snv 4.8E-05 3.5E-05 0.700 0
dbSNP: rs121918413
rs121918413
GLRA1 ; LOC112267935
3 1.000 0.120 5 151851470 missense variant G/T snv 0.730 1.000 3 1999 2004
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
2 5 151851530 missense variant G/T snv 4.0E-06 0.030 1.000 3 1999 2004
dbSNP: rs202247813
rs202247813
GLRA1 ; LOC112267935
2 1.000 0.160 5 151855144 missense variant C/G snv 0.030 1.000 3 2012 2016
dbSNP: rs121918408
rs121918408
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851406 missense variant C/A;T snv 0.720 1.000 2 1995 2006
dbSNP: rs121918410
rs121918410
GLRA1
2 1.000 0.120 5 151829060 missense variant T/C;G snv 4.0E-06 0.710 1.000 1 2002 2002
dbSNP: rs121918412
rs121918412
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851392 missense variant T/C snv 0.710 1.000 1 1996 1996
dbSNP: rs121918416
rs121918416
GLRA1 ; LOC112267935
4 0.882 0.160 5 151851440 missense variant C/T snv 0.710 1.000 1 2016 2016
dbSNP: rs121918417
rs121918417
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851525 missense variant G/C snv 0.710 1.000 1 2002 2002
dbSNP: rs200130685
rs200130685
GLRA1
1 5 151822698 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs267606848
rs267606848
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851418 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs281864914
rs281864914
GLRA1 ; LOC112267935
1 5 151859962 missense variant C/T snv 8.0E-06; 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs281864919
rs281864919
GLRA1
2 1.000 0.120 5 151822764 missense variant C/T snv 4.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs281864920
rs281864920
GLRA1 ; LOC112267935
1 5 151851410 missense variant A/C;T snv 0.710 1.000 1 2003 2003
dbSNP: rs121918409
rs121918409
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851487 missense variant A/T snv 0.700 0
dbSNP: rs121918411
rs121918411
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851420 missense variant C/A;G snv 0.700 0
dbSNP: rs121918415
rs121918415
GLRA1 ; LOC112267935
2 1.000 0.120 5 151855047 stop gained G/A;T snv 0.700 0
dbSNP: rs281864916
rs281864916
GLRA1 ; LOC112267935
1 5 151851565 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs281864917
rs281864917
GLRA1 ; LOC112267935
1 5 151851501 missense variant C/G snv 0.700 0
dbSNP: rs281864921
rs281864921
GLRA1
2 1.000 0.120 5 151829059 frameshift variant A/- del 0.700 0
dbSNP: rs143918578
rs143918578
SLC6A5
1 11 20652332 missense variant A/G snv 2.4E-03 4.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs745539706
rs745539706
SLC6A5
2 1.000 11 20626733 missense variant C/T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121908493
rs121908493
SLC6A5
2 1.000 11 20617755 stop gained C/A snv 8.0E-06 3.5E-05 0.700 0