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: rs17530068
rs17530068
LOC105377871
3 0.882 0.120 6 81483392 intergenic variant T/C snv 0.19 0.010 1.000 1 2020 2020
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs1016343
rs1016343
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10399805
rs10399805
CHI3L1
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11600655
rs11600655
PLAAT3
2 0.925 0.120 11 63606853 intron variant G/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs1187825488
rs1187825488
LINC00960 ; ZNF717 ; MIR4273
1 1.000 0.080 3 75737670 frameshift variant TT/- del 7.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs13252298
rs13252298
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.827 0.160 8 127082911 non coding transcript exon variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799817
rs1799817
INSR
4 0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2019 2019
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2019 2019
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs2105269
rs2105269
GALNT16
4 0.882 0.120 14 69280517 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2288496
rs2288496
TSHR ; LOC101928462
2 0.925 0.120 14 81145770 3 prime UTR variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2019 2019
dbSNP: rs2622621
rs2622621
ABCG2
6 0.851 0.240 4 88109768 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs2881766
rs2881766
ESR1
5 0.882 0.120 6 151797984 intron variant T/G snv 0.35 0.010 1.000 1 2019 2019