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: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519475
rs1057519475
FOXC1
2 1.000 0.080 6 1610761 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519866
rs1057519866
NT5C2
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1060504185
rs1060504185
CDKN2A
1 9 21971116 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs10938397
rs10938397 		19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs1156401234
rs1156401234
DNM1L ; YARS2
1 12 32740421 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1170695
rs1170695
SLC6A1 ; SLC6A1-AS1
2 1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs121908153
rs121908153
NLRP3
4 0.882 0.080 1 247424356 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs121908672
rs121908672
LRP5
3 0.925 0.080 11 68357802 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121909731
rs121909731
GLUD1
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121912678
rs121912678
ACVR1
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121912703
rs121912703
ACE
2 17 63496977 missense variant C/T snv 3.7E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs121913470
rs121913470
ERBB2
13 0.776 0.200 17 39723967 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121918626
rs121918626
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.925 0.080 2 166012179 missense variant T/G snv 0.010 1.000 1 2020 2020
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs12765063
rs12765063
CREM ; CUL2
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1331851285
rs1331851285
CASP1
2 1.000 0.080 11 105029220 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1334791875
rs1334791875
APP
1 21 25982369 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1365502141
rs1365502141
APP
1 21 26000017 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs150450891
rs150450891
FTO
1 16 53826341 missense variant G/A snv 4.6E-04 5.7E-04 0.010 1.000 1 2014 2014