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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2009 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.700 1.000 2 2016 2019
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs635634
rs635634 		22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1800961
rs1800961
HNF4A
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs174548
rs174548
FADS1 ; FADS2
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs2111485
rs2111485 		17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs4676410
rs4676410
GPR35
17 0.716 0.240 2 240624322 intron variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs62324212
rs62324212
IL21-AS1
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10174238
rs10174238
STAT4
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs13331259
rs13331259
FAM234A
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2853961
rs2853961 		13 6 31264212 downstream gene variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs3123543
rs3123543
ATF3
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs4837892
rs4837892
TTLL11
13 9 121826025 intron variant G/T snv 0.36 0.700 1.000 1 2019 2019