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: rs770642379
rs770642379
KYNU
8 0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs229540
rs229540
C1QTNF6
1 1.000 0.040 22 37195250 intron variant T/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs34509786
rs34509786 		1 1.000 0.040 3 12264417 intergenic variant T/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs10277273
rs10277273
FOXK1
1 1.000 0.040 7 4745498 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs60600003
rs60600003
ELMO1
7 0.827 0.120 7 37342861 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs76428106
rs76428106
FLT3
10 0.851 0.040 13 28029870 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs939348
rs939348
THRA
5 0.851 0.240 17 40075600 intron variant T/C;G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.050 1.000 5 2013 2019
dbSNP: rs11177053
rs11177053
IFNG-AS1 ; LOC107984526
1 1.000 0.040 12 68105457 intron variant T/C snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs114558062
rs114558062 		5 0.851 0.040 3 187923342 intergenic variant T/C snv 6.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs11666808
rs11666808
IQCN
3 1.000 0.040 19 18272696 intron variant T/C snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs11898293
rs11898293
BAZ2B
1 1.000 0.040 2 159696082 intron variant T/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs11926768
rs11926768
TRANK1
1 1.000 0.040 3 36926856 intron variant T/C snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs1237473071
rs1237473071
TSHR ; LOC101928462
2 0.925 0.040 14 81143791 missense variant T/C snv 7.0E-06 0.010 < 0.001 1 2012 2012
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: rs12756886
rs12756886
GPR25
1 1.000 0.040 1 200871339 upstream gene variant T/C snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs13297295
rs13297295
LRRC8A
1 1.000 0.040 9 128897445 intron variant T/C snv 8.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs17020088
rs17020088
VAV3
1 1.000 0.040 1 107809190 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs17606253
rs17606253
SLC16A10
1 1.000 0.040 6 111205242 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2412975
rs2412975
HORMAD2
1 1.000 0.040 22 30144601 intron variant T/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs2473808
rs2473808
AKR7A2 ; SLC66A1
1 1.000 0.040 1 19312389 5 prime UTR variant T/C snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs2516049
rs2516049
HLA-DRB1
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2012 2012