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: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2020 2020
dbSNP: rs13426236
rs13426236
MLPH
2 0.925 0.080 2 237539297 intron variant A/G snv 0.32 0.010 1.000 1 2020 2020
dbSNP: rs35672330
rs35672330
EXO5
2 0.925 0.080 1 40514996 missense variant T/C snv 4.4E-02 4.4E-02 0.010 1.000 1 2020 2020
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs772893086
rs772893086
ADARB1
4 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs919467999
rs919467999
ERG
2 0.925 0.080 21 38383632 missense variant G/A snv 0.010 1.000 1 2020 2020
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 0.020 1.000 2 2019 2019
dbSNP: rs1046040
rs1046040
POLR2E
2 0.925 0.080 19 1095515 upstream gene variant G/A snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1076064
rs1076064
PPARGC1B ; MIR378A
4 0.851 0.160 5 149732603 intron variant A/G snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1125927
rs1125927 		2 0.925 0.080 13 62947758 intergenic variant G/A snv 9.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs1126647
rs1126647
CXCL8
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs11639084
rs11639084
RORA
4 0.851 0.200 15 60774317 intron variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1192131078
rs1192131078
KLK3
2 0.925 0.080 19 50858075 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12680047
rs12680047 		2 0.925 0.080 8 127746615 downstream gene variant T/C snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs138708
rs138708
SUN2
2 0.925 0.080 22 38742327 missense variant G/A;T snv 2.2E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1569686
rs1569686
DNMT3B
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs16902359
rs16902359
CASC11
2 0.925 0.080 8 127730605 non coding transcript exon variant C/T snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1799796
rs1799796
KLC1 ; XRCC3
7 0.790 0.240 14 103699590 intron variant T/A;C snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1815009
rs1815009
IGF1R
3 0.925 0.080 15 98961442 3 prime UTR variant C/T snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs2069845
rs2069845
IL6
8 0.807 0.120 7 22730530 intron variant G/A snv 0.61 0.010 1.000 1 2019 2019
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs2297441
rs2297441
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
6 0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2301241
rs2301241
TXN
5 0.827 0.160 9 110257228 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019