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: rs786204662
rs786204662
HGD
1 1.000 0.080 3 120644441 splice acceptor variant C/- delins 7.0E-06 0.700 1.000 3 2000 2013
dbSNP: rs786204422
rs786204422
HGD
1 1.000 0.080 3 120682101 stop gained A/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2002 2009
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
dbSNP: rs775274569
rs775274569
HGD
1 1.000 0.080 3 120647888 missense variant T/C snv 0.700 1.000 13 1996 2015
dbSNP: rs767201131
rs767201131
HGD
1 1.000 0.080 3 120646269 missense variant A/G snv 4.0E-06 0.700 0
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: 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: 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: rs760206323
rs760206323
HGD
1 1.000 0.080 3 120633146 splice donor variant C/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 2 2009 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: 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: rs756134838
rs756134838
HGD
1 1.000 0.080 3 120647015 missense variant A/C snv 8.0E-06 0.700 0
dbSNP: rs755734596
rs755734596
HGD
1 1.000 0.080 3 120650865 missense variant C/G snv 8.0E-06 7.0E-06 0.700 0
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: 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: 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: rs564979861
rs564979861
HGD
1 1.000 0.080 3 120650841 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
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: rs552207335
rs552207335
HGD
1 1.000 0.080 3 120682096 splice donor variant C/T snv 0.700 0
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: rs397515518
rs397515518
HGD
1 1.000 0.080 3 120652591 splice donor variant C/A;T snv 1.6E-05 0.700 1.000 4 1998 2011
dbSNP: rs397515517
rs397515517
HGD
1 1.000 0.080 3 120674902 frameshift variant T/- delins 0.700 0
dbSNP: rs397515516
rs397515516
HGD
1 1.000 0.080 3 120633223 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs397515347
rs397515347
HGD
1 1.000 0.080 3 120675864 splice acceptor variant C/T snv 2.0E-05 4.2E-05 0.700 0
dbSNP: rs397515346
rs397515346
HGD
1 1.000 0.080 3 120647888 frameshift variant -/C delins 2.8E-05 2.8E-05 0.700 0