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: rs10281637
rs10281637 		2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs2024211
rs2024211 		1 1.000 0.040 7 116512971 downstream gene variant A/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs2188836
rs2188836 		2 1.000 0.040 7 117995328 downstream gene variant C/T snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs17752199
rs17752199 		3 0.925 0.040 6 51542050 upstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1800630
rs1800630
LTA ; TNF ; LOC100287329
17 0.701 0.480 6 31574699 upstream gene variant C/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2437812
rs2437812
LOC105376196
1 1.000 0.040 9 104930920 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2472496
rs2472496
LOC105376196
2 1.000 0.040 9 104933072 upstream gene variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs3116139
rs3116139 		1 1.000 0.040 19 51375780 upstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs7081455
rs7081455 		4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4656461
rs4656461 		7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.810 1.000 2 2011 2012
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.040 0.500 4 2005 2018
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.710 1.000 2 2011 2017
dbSNP: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs4986938
rs4986938
ESR2
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.010 1.000 1 2010 2010
dbSNP: rs555091
rs555091
ELP4 ; IMMP1L
1 1.000 0.040 11 31511412 3 prime UTR variant T/C snv 5.6E-03 0.700 1.000 1 2014 2014
dbSNP: rs564398
rs564398
CDKN2B-AS1
18 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 0.700 1.000 1 2012 2012
dbSNP: rs16958477
rs16958477
LOXL1 ; LOXL1-AS1
2 0.925 0.040 15 73926125 5 prime UTR variant A/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs77888940
rs77888940
FOXC1
1 1.000 0.040 6 1610017 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs41435250
rs41435250
LOXL1 ; LOXL1-AS1
2 0.925 0.040 15 73927743 synonymous variant G/T snv 6.1E-02 3.7E-02 0.010 1.000 1 2014 2014