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: rs190996050
rs190996050 		1 1.000 0.040 5 1048492 downstream gene variant T/C snv 5.7E-03 0.700 1.000 1 2017 2017
dbSNP: rs2006209
rs2006209 		1 1.000 0.040 19 41589873 downstream gene variant C/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs2069852
rs2069852 		4 0.925 0.080 7 22732641 downstream gene variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2179920
rs2179920 		1 1.000 0.040 6 33091097 downstream gene variant C/T snv 0.27 0.710 1.000 1 2016 2016
dbSNP: rs2256543
rs2256543
HLA-A
2 0.925 0.080 6 29970056 downstream gene variant T/C snv 0.59 0.700 1.000 1 2009 2009
dbSNP: rs2746150
rs2746150 		4 0.851 0.240 6 29474924 downstream gene variant C/T snv 5.3E-02 0.700 1.000 1 2009 2009
dbSNP: rs4635969
rs4635969 		7 0.827 0.160 5 1308437 downstream gene variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.700 1.000 1 2009 2009
dbSNP: rs116506680
rs116506680 		1 1.000 0.040 6 29813272 upstream gene variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11907546
rs11907546 		17 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs138488080
rs138488080 		3 0.882 0.120 6 29638984 upstream gene variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs3094054
rs3094054 		6 0.807 0.280 6 30365728 upstream gene variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs3130350
rs3130350 		5 0.827 0.280 6 30360062 upstream gene variant G/T snv 7.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs397516975
rs397516975
ERBB2 ; MIR4728
2 0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins 0.700 0
dbSNP: rs587776805
rs587776805
ERBB2 ; MIR4728
1 1.000 0.040 17 39724745 inframe insertion -/TGTGGGCTC delins 0.700 0
dbSNP: rs1554350382
rs1554350382
EGFR ; EGFR-AS1
1 1.000 0.040 7 55181318 protein altering variant -/GTC ins 0.700 0
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
11 0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17 0.010 1.000 1 2017 2017
dbSNP: rs3813565
rs3813565
CHRNB4 ; LOC105370913
6 0.851 0.080 15 78727268 splice region variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs3129763
rs3129763 		6 0.827 0.280 6 32623148 TF binding site variant G/A snv 0.23 0.700 1.000 1 2009 2009