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: rs10883371
rs10883371
NKX2-3 ; LINC01475
1 1.000 0.040 10 99532698 upstream gene variant C/A snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs11203203
rs11203203
UBASH3A
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs11676348
rs11676348 		8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12369214
rs12369214
RIC8B
6 0.807 0.120 12 106804833 intron variant G/A snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs12479056
rs12479056
PUS10
1 1.000 0.040 2 60948177 synonymous variant T/C snv 0.56 0.62 0.700 1.000 1 2013 2013
dbSNP: rs13140464
rs13140464 		2 0.925 0.040 4 122578590 regulatory region variant G/T snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs1452787
rs1452787
TCF4
5 0.827 0.160 18 55539976 intron variant A/G snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs1788097
rs1788097
CD226
2 0.925 0.040 18 69876452 intron variant C/T snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs2836883
rs2836883 		4 0.882 0.080 21 39094818 intergenic variant G/A snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs34762726
rs34762726
BSN
1 1.000 0.040 3 49651777 missense variant G/A snv 0.27 0.28 0.700 1.000 1 2013 2013
dbSNP: rs4147359
rs4147359 		2 0.925 0.040 10 6066476 upstream gene variant G/A snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs415595
rs415595
TNP2 ; RMI2 ; LOC105371082
1 1.000 0.040 16 11269835 intron variant A/G snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs56258221
rs56258221
LOC105377891
2 0.925 0.040 6 90320722 intron variant T/C snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs60652743
rs60652743
PRKD2
2 0.925 0.040 19 46702450 intron variant A/G snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs633683
rs633683
PHLDB1
1 1.000 0.040 11 118634025 non coding transcript exon variant T/C snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs694739
rs694739
LOC102723878
9 0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs7556897
rs7556897 		7 0.807 0.120 2 227795396 intergenic variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.700 1.000 1 2013 2013
dbSNP: rs7937682
rs7937682
PPP2R1B ; SIK2
2 0.925 0.040 11 111709215 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs13191240
rs13191240
ADGRB3
1 1.000 0.040 6 68965567 intron variant T/C snv 4.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs35730843
rs35730843
POLR2G
2 0.925 0.080 11 62760162 upstream gene variant A/C;G snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs3822659
rs3822659
WWC1
2 0.925 0.080 5 168431367 missense variant T/G snv 8.7E-02 0.12 0.010 1.000 1 2017 2017