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: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs13391552
rs13391552
ALMS1
2 2 73591809 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1349497
rs1349497
RAPGEF4-AS1
2 2 172727935 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1495743
rs1495743 		6 8 18415790 intergenic variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1558318
rs1558318 		3 1.000 0.080 7 15025987 intergenic variant A/T snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs17140821
rs17140821 		16 0.851 0.120 7 19177581 regulatory region variant G/A snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs17168486
rs17168486
DGKB
5 1.000 0.080 7 14858657 intron variant C/T snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs17277546
rs17277546
TRIM4
4 7 99891948 3 prime UTR variant G/A snv 3.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs1728918
rs1728918 		19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1869717
rs1869717
MAML3
16 0.851 0.120 4 139829967 intron variant G/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs2023634
rs2023634
DGCR9 ; DGCR5
2 22 18984937 intron variant A/G snv 7.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs2066938
rs2066938
UNC119B ; MIR4700
3 12 120722812 3 prime UTR variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs2074755
rs2074755
BAZ1B
20 0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs2087160
rs2087160
ENPEP
2 4 110413574 intron variant G/T snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs211718
rs211718
SLC44A5
3 1 75640990 downstream gene variant T/C snv 0.75 0.700 1.000 1 2011 2011
dbSNP: rs2216405
rs2216405 		2 2 210752170 intergenic variant A/G snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs222826
rs222826 		16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2232326
rs2232326
SPC25 ; G6PC2
3 2 168907981 missense variant T/C snv 5.1E-03 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs2403254
rs2403254
HPS5
2 11 18303599 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2411884
rs2411884
KCNQ1
2 11 2714304 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs247617
rs247617 		20 0.827 0.160 16 56956804 regulatory region variant C/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs2518049
rs2518049
AKR1C3
2 10 5095844 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs261332
rs261332
LIPC ; ALDH1A2 ; LIPC-AS1
20 0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80 0.700 1.000 1 2016 2016
dbSNP: rs2624265
rs2624265
LINC02694
3 15 38856448 intron variant T/C snv 0.28 0.700 1.000 1 2009 2009