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: rs762679
rs762679
MCM4
4 8 47972876 missense variant T/A snv 0.87 0.88 0.700 1.000 1 2019 2019
dbSNP: rs3735485
rs3735485
MYO1G
6 7 44969742 missense variant A/G snv 0.87 0.88 0.700 1.000 1 2016 2016
dbSNP: rs4645881
rs4645881
BAX
2 19 48955005 non coding transcript exon variant C/G;T snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs7302975
rs7302975
RESF1
1 12 31985990 intron variant T/C snv 0.81 0.80 0.700 1.000 1 2019 2019
dbSNP: rs1805419
rs1805419
BAX
1 19 48955847 intron variant A/G snv 0.67 0.66 0.700 1.000 1 2019 2019
dbSNP: rs1071849
rs1071849
CD52 ; UBXN11
1 1 26320235 missense variant A/G snv 0.67 0.70 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: rs1800692
rs1800692
TNFRSF1A
5 0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 0.700 1.000 1 2019 2019
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: 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: rs440446
rs440446
APOE
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs2856451
rs2856451
TNXB
3 6 32043581 intron variant A/G;T snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs14408
rs14408
IFITM2
4 11 308314 missense variant T/C;G snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs2227312
rs2227312
TNFRSF14 ; TNFRSF14-AS1
1 1 2556224 5 prime UTR variant C/A snv 0.51 0.54 0.700 1.000 1 2019 2019
dbSNP: rs7257
rs7257
MTHFS ; ST20 ; ST20-MTHFS
1 15 79899001 missense variant G/A snv 0.51 0.47 0.700 1.000 1 2019 2019
dbSNP: rs888838
rs888838
CCDC9
1 19 47270529 intron variant A/G;T snv 0.51; 1.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs2075995
rs2075995
E2F2 ; LOC101928163
3 1 23520972 missense variant C/A snv 0.45 0.39 0.700 1.000 2 2016 2019
dbSNP: rs228953
rs228953
IL2RB
1 22 37135396 synonymous variant G/A snv 0.42 0.43 0.700 1.000 1 2019 2019
dbSNP: rs1059091
rs1059091
IFITM2
1 11 309127 missense variant A/C;G;T snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs12952581
rs12952581
LOC102724596
3 0.925 0.080 17 49370984 intron variant G/A snv 0.42 0.28 0.700 1.000 1 2019 2019
dbSNP: rs887387
rs887387
ATP2A3
1 17 3925408 synonymous variant T/C snv 0.35 0.32 0.700 1.000 1 2019 2019
dbSNP: rs6919266
rs6919266
EFHC1
1 6 52495747 3 prime UTR variant T/C snv 0.34 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.800 1.000 1 2009 2009
dbSNP: rs725660
rs725660
BHMG1
2 19 45759028 missense variant C/A snv 0.32 0.33 0.700 1.000 1 2016 2016