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: rs1042127
rs1042127
CDSN ; PSORS1C1
2 0.925 0.120 6 31116393 missense variant A/C snv 0.21 0.17 0.010 1.000 1 2019 2019
dbSNP: rs10790162
rs10790162
BUD13
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs12231744
rs12231744
NAA25 ; MIR3657
1 1.000 12 112039251 missense variant T/C snv 9.4E-02 4.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs147317864
rs147317864
TRABD2B
2 0.925 0.080 1 47801502 missense variant C/G;T snv 2.3E-03 3.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs2074379
rs2074379
ALPK1
3 1.000 4 112431743 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2074388
rs2074388
ALPK1
3 1.000 4 112431241 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2015 2015
dbSNP: rs2269702
rs2269702
MDC1 ; MDC1-AS1
1 1.000 6 30707358 intron variant T/A;C;G snv 3.1E-02 4.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs2269703
rs2269703
NRM
1 1.000 6 30690608 missense variant C/T snv 3.3E-02 2.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs2290532
rs2290532
OSBPL10
1 1.000 3 31748090 missense variant T/C snv 0.48 0.37 0.010 1.000 1 2010 2010
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs34902660
rs34902660
SLC17A3
2 0.925 0.080 6 25850874 missense variant C/A snv 2.4E-03 5.5E-03 0.010 1.000 1 2019 2019
dbSNP: rs46522
rs46522
UBE2Z
8 0.807 0.120 17 48911235 non coding transcript exon variant C/T snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs4845625
rs4845625
IL6R
9 0.851 0.080 1 154449591 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs6929846
rs6929846
BTN2A1
10 0.827 0.160 6 26458037 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs7350481
rs7350481 		8 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2015 2015