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: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 < 0.001 1 2019 2019
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2019 2019
dbSNP: rs776022790
rs776022790
FYB1
2 0.925 0.040 5 39202836 missense variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.810 1.000 4 2009 2018
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2007 2018
dbSNP: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.020 1.000 2 2010 2018
dbSNP: rs11335470
rs11335470
LINC00944
1 1.000 0.040 12 126753075 intron variant T/- delins 0.94 0.700 1.000 1 2018 2018
dbSNP: rs113449872
rs113449872 		1 1.000 0.040 5 43909241 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs114169033
rs114169033
FRG1-DT
1 1.000 0.040 4 189796550 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs144312179
rs144312179
FAM155A
1 1.000 0.040 13 107575665 intron variant A/G snv 7.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs149085856
rs149085856 		1 1.000 0.040 17 12496210 intergenic variant C/-;CC;CCC delins 0.700 1.000 1 2018 2018
dbSNP: rs17624383
rs17624383 		1 1.000 0.040 7 53609144 intergenic variant G/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs1878468
rs1878468
TENM3 ; TENM3-AS1
1 1.000 0.040 4 181901179 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs2073342
rs2073342
RNASE3 ; LOC100507513
3 0.882 0.200 14 20892057 missense variant C/G snv 0.73 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2233860
rs2233860
RNASE3 ; LOC100507513
3 0.882 0.160 14 20892185 3 prime UTR variant G/C snv 0.18 0.19 0.010 1.000 1 2018 2018
dbSNP: rs2288831
rs2288831
IL12B ; LOC107986469
2 0.925 0.080 5 159323005 intron variant T/C snv 0.28 0.26 0.010 1.000 1 2018 2018
dbSNP: rs2967790
rs2967790
KLHL3
1 1.000 0.040 5 137676072 intron variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs3133394
rs3133394
LOC105369574
1 1.000 0.040 11 130547627 upstream gene variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2018 2018
dbSNP: rs6588252
rs6588252 		1 1.000 0.040 1 67273345 upstream gene variant G/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs6682413
rs6682413 		1 1.000 0.040 1 67265931 downstream gene variant G/A snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs73505850
rs73505850
CSMD1
1 1.000 0.040 8 4897316 intron variant G/A snv 2.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs73832816
rs73832816 		1 1.000 0.040 4 99508600 upstream gene variant G/A snv 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs8019343
rs8019343
RNASE3 ; LOC100507513
2 0.925 0.080 14 20892263 3 prime UTR variant A/T snv 4.2E-02 0.010 1.000 1 2018 2018