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: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.700 1.000 3 2014 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.700 1.000 14 2007 2019
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2010 2010
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 4 2007 2018
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7679673
rs7679673 		28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs2735940
rs2735940
TERT
25 0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 0.700 1.000 3 2019 2019
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 8 2008 2019
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.700 1.000 3 2008 2019
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs4808075
rs4808075
BABAM1 ; USHBP1
18 0.701 0.280 19 17279482 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs56084662
rs56084662
FRY
18 0.701 0.280 13 32295727 3 prime UTR variant G/A snv 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs75316749
rs75316749
LOC107986051
18 0.701 0.280 3 169043635 intergenic variant A/G snv 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.700 1.000 8 2007 2019
dbSNP: rs11196172
rs11196172
TCF7L2
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.700 1.000 4 2014 2019
dbSNP: rs174537
rs174537
MYRF ; TMEM258
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.700 1.000 4 2014 2019
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016