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: rs120074173
rs120074173
HGD
1 1.000 0.080 3 120633233 missense variant T/C snv 1.7E-04 3.0E-04 0.810 1.000 15 1996 2015
dbSNP: rs120074174
rs120074174
HGD
1 1.000 0.080 3 120641660 missense variant C/A;T snv 5.6E-05 0.810 1.000 15 1996 2015
dbSNP: rs120074172
rs120074172
HGD
1 1.000 0.080 3 120633223 missense variant T/C snv 3.6E-05; 4.0E-06 1.2E-04 0.810 1.000 13 1996 2015
dbSNP: rs28941783
rs28941783
HGD
1 1.000 0.080 3 120647041 missense variant C/T snv 8.8E-05 1.6E-04 0.800 1.000 18 1996 2016
dbSNP: rs120074170
rs120074170
HGD
1 1.000 0.080 3 120638562 missense variant A/C;G snv 0.800 1.000 15 1996 2015
dbSNP: rs544956641
rs544956641
HGD
1 1.000 0.080 3 120650843 missense variant G/A snv 5.6E-05 0.800 1.000 15 1996 2015
dbSNP: rs562853291
rs562853291
HGD
1 1.000 0.080 3 120644419 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.800 1.000 15 1996 2015
dbSNP: rs200808744
rs200808744
HGD
1 1.000 0.080 3 120674919 missense variant C/T snv 4.0E-05 5.6E-05 0.800 1.000 14 1996 2016
dbSNP: rs28942100
rs28942100
HGD
1 1.000 0.080 3 120644405 missense variant G/A snv 4.0E-05 2.8E-05 0.800 1.000 14 1996 2015
dbSNP: rs767159114
rs767159114
HGD
1 1.000 0.080 3 120628517 missense variant C/G snv 4.0E-06 0.800 1.000 14 1996 2016
dbSNP: rs120074171
rs120074171
HGD
1 1.000 0.080 3 120638471 missense variant C/A;G;T snv 2.4E-05 0.800 1.000 13 1996 2015
dbSNP: rs754428438
rs754428438
HGD
1 1.000 0.080 3 120641595 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.710 1.000 13 1996 2015
dbSNP: rs1414279737
rs1414279737
HGD
1 1.000 0.080 3 120646327 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 13 1996 2015
dbSNP: rs1553717936
rs1553717936
HGD
1 1.000 0.080 3 120647891 missense variant C/G snv 0.700 1.000 13 1996 2015
dbSNP: rs368717991
rs368717991
HGD
1 1.000 0.080 3 120633257 missense variant C/G snv 1.2E-05 1.4E-05 0.700 1.000 13 1996 2015
dbSNP: rs373921680
rs373921680
HGD
1 1.000 0.080 3 120674952 missense variant T/G snv 4.4E-05 7.0E-05 0.700 1.000 13 1996 2015
dbSNP: rs374473331
rs374473331
HGD
1 1.000 0.080 3 120650840 missense variant C/G;T snv 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs569846003
rs569846003
HGD
1 1.000 0.080 3 120650861 missense variant A/G snv 4.4E-05 0.700 1.000 13 1996 2015
dbSNP: rs752153829
rs752153829
HGD
1 1.000 0.080 3 120650849 missense variant C/A;T snv 3.6E-05; 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs756522409
rs756522409
HGD
1 1.000 0.080 3 120641662 missense variant T/C snv 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs759843592
rs759843592
HGD
1 1.000 0.080 3 120644320 missense variant T/G snv 0.700 1.000 13 1996 2015
dbSNP: rs764037565
rs764037565
HGD
1 1.000 0.080 3 120633259 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs765912447
rs765912447
HGD
1 1.000 0.080 3 120633229 missense variant G/T snv 4.0E-06 0.700 1.000 13 1996 2015
dbSNP: rs775274569
rs775274569
HGD
1 1.000 0.080 3 120647888 missense variant T/C snv 0.700 1.000 13 1996 2015
dbSNP: rs780173554
rs780173554
HGD
1 1.000 0.080 3 120647018 missense variant C/G snv 8.0E-06 7.0E-06 0.700 1.000 13 1996 2015