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 2019 2019
dbSNP: rs2075184
rs2075184 		14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs4761587
rs4761587
PLXNC1
4 0.882 12 94158023 intron variant A/G snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs9683415
rs9683415 		4 0.882 4 40290296 regulatory region variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs7100025
rs7100025
ANKRD30A ; LINC00993
14 0.724 0.240 10 37303610 intron variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs7310615
rs7310615
SH2B3
12 0.882 12 111427245 intron variant C/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs865488
rs865488
TG
4 0.882 8 132926377 intron variant C/T snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10425559
rs10425559 		7 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs1320344
rs1320344
C12orf42
4 0.882 12 103493699 intron variant A/G snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs11086102
rs11086102 		6 0.882 19 18287818 upstream gene variant G/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs34884278
rs34884278 		14 0.724 0.240 1 172869708 intron variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs5865
rs5865
TMEM131
5 0.851 0.040 2 97756543 3 prime UTR variant C/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs2030519
rs2030519
LPP
7 0.827 0.200 3 188402113 intron variant G/A snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs2181622
rs2181622
LINC02649 ; LINC02656
4 0.882 10 6349099 intron variant G/A snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs7042370
rs7042370
LURAP1L ; LURAP1L-AS1
14 0.724 0.240 9 12785074 intron variant T/C snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs12482947
rs12482947
UBASH3A
5 0.851 0.040 21 42431928 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs1549922
rs1549922 		4 0.882 5 159304540 intergenic variant G/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs1790588
rs1790588
CD226
4 0.882 18 69867948 intron variant T/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs970987
rs970987 		5 0.851 0.040 9 21585266 regulatory region variant C/A snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs7725052
rs7725052 		16 0.716 0.240 5 40487168 intron variant C/T snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs10202630
rs10202630 		4 0.882 2 190398199 intergenic variant T/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs13299616
rs13299616
PSMD5 ; CUTALP
4 0.882 9 120832525 intron variant T/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs229541
rs229541
C1QTNF6
8 0.807 0.200 22 37195278 intron variant G/A snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs12980063
rs12980063
CPT1C
4 0.882 19 49693735 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019