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: rs2277862
rs2277862
FER1L4
1 20 35564866 non coding transcript exon variant C/T snv 0.18 0.17 0.800 1.000 3 2010 2018
dbSNP: rs10904908
rs10904908
VIM-AS1
1 10 17218291 intron variant A/G snv 0.41 0.800 1.000 2 2013 2017
dbSNP: rs138777
rs138777
TOM1
1 22 35315105 intron variant A/G snv 0.51 0.800 1.000 2 2013 2017
dbSNP: rs1699337
rs1699337
PPARG
1 3 12408594 intron variant G/A;T snv 0.700 1.000 2 2015 2018
dbSNP: rs2290159
rs2290159
RAF1
1 3 12587421 non coding transcript exon variant G/C snv 0.23 0.800 1.000 2 2010 2013
dbSNP: rs55649657
rs55649657
DNAH11 ; LOC105375183
1 7 21567665 intron variant C/G snv 0.16 0.700 1.000 2 2015 2018
dbSNP: rs6579245
rs6579245 		1 20 35537447 upstream gene variant C/T snv 0.16 0.700 1.000 2 2015 2018
dbSNP: rs10029254
rs10029254
KLHL8
1 4 87238988 intron variant C/T snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1010305
rs1010305
CHD6
1 20 41472901 intron variant A/G;T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs10115928
rs10115928
ABCA1
1 9 104888562 intron variant C/T snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs10177080
rs10177080
ABCB11
1 2 168974288 intron variant G/A snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs10220503
rs10220503
NPC2 ; MIR4709
1 14 74480389 3 prime UTR variant C/A snv 1.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs1029040
rs1029040
PCSK5
1 9 76038907 intron variant T/C snv 8.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs1062062
rs1062062
RPL31 ; TBC1D8
1 2 101011463 missense variant C/T snv 9.8E-02 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10692845
rs10692845 		1 2 21070463 regulatory region variant -/GA;GACTCAAAGTACACATTTCCTAGA delins 0.69 0.700 1.000 1 2018 2018
dbSNP: rs1077514
rs1077514
ASAP3
1 1 23439740 intron variant C/T snv 0.75 0.800 1.000 1 2013 2013
dbSNP: rs10832962
rs10832962
SPTY2D1 ; LOC105376578
1 11 18634724 non coding transcript exon variant C/T snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs11102967
rs11102967
CELSR2
1 1 109274623 3 prime UTR variant C/G;T snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs1122531
rs1122531
PKD1L3
1 16 71978873 intron variant C/T snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs11239544
rs11239544
MARCHF8
1 10 45512085 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1126627
rs1126627
HEATR1
1 1 236555320 missense variant T/C snv 0.61 0.60 0.700 1.000 1 2018 2018
dbSNP: rs11291804
rs11291804 		1 17 30305102 intergenic variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs115400054
rs115400054
ICA1L
1 2 202811382 intron variant C/T snv 8.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs11570324
rs11570324
EDN3
1 20 59318198 intron variant A/T snv 1.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs11573213
rs11573213
PLA2G5
1 1 20075517 intron variant A/C;G snv 0.700 1.000 1 2012 2012