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: rs138850469
rs138850469
NEUROD1 ; CERKL
1 2 181678775 missense variant G/C snv 5.2E-05 4.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs2073932
rs2073932
ADAMTS13
1 9 133440318 intron variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs33929415
rs33929415
HBB
1 11 5225612 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs35810727
rs35810727
AVPR1B
1 1 206112629 intron variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs536297956
rs536297956
ATP8A2
1 13 25530064 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs652600
rs652600
ADAMTS13
1 9 133445896 intron variant G/A snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs7375036
rs7375036
SCN10A
1 3 38727881 intron variant T/C snv 6.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs750521766
rs750521766
LAD1
1 1 201389275 missense variant C/T snv 1.1E-04 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs7712562
rs7712562
TERT
1 5 1295957 upstream gene variant A/G snv 0.88 0.010 1.000 1 2018 2018
dbSNP: rs587783675
rs587783675
KCNJ11
1 11 17387104 missense variant A/G snv 0.700 0
dbSNP: rs1169305
rs1169305
HNF1A
2 1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99 0.020 1.000 2 2000 2002
dbSNP: rs1013773109
rs1013773109
GRB14
2 1.000 0.040 2 164497436 missense variant T/C snv 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs1036915
rs1036915
NTRK2
2 1.000 0.040 9 84822934 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1042488900
rs1042488900
ATF6
2 1.000 0.040 1 161802188 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1042615
rs1042615
AVPR1A
2 1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs10484821
rs10484821
LOC105378024
2 1.000 0.040 6 139547773 intron variant T/C snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs10497721
rs10497721
TMEFF2 ; LOC101927366
2 1.000 0.040 2 192049636 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1057520291
rs1057520291
HNF1A
2 1.000 0.120 12 120989017 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1060366
rs1060366
ATP1A1
2 1.000 0.040 1 116384040 synonymous variant A/G snv 1.3E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs10747983
rs10747983
AVPR1A
2 1.000 0.040 12 63144678 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs10818684
rs10818684 		2 1.000 0.040 9 122407651 intron variant C/T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs11574
rs11574
ID3
2 1.000 0.040 1 23559007 missense variant T/A;C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs118081497
rs118081497
EEA1
2 1.000 0.040 12 92782070 missense variant A/T snv 1.1E-02 3.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs1187274
rs1187274
NTRK2
2 1.000 0.040 9 84804874 intron variant C/G snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs1206634
rs1206634 		2 1.000 0.040 X 96302380 intron variant T/A;G snv 0.010 1.000 1 2013 2013