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: rs10102164
rs10102164
RP1
4 8 54509054 upstream gene variant G/A snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs10490626
rs10490626
LOC107985940
3 2 118078265 intergenic variant G/A snv 5.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs1065853
rs1065853 		5 19 44909976 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs11563251
rs11563251
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
5 2 233770738 3 prime UTR variant C/T snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1160985
rs1160985
TOMM40
6 1.000 0.080 19 44900155 intron variant C/T snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs1250229
rs1250229 		4 1.000 0.040 2 215439661 upstream gene variant T/C snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs12748152
rs12748152 		8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs17111684
rs17111684
USP24
4 1 55159875 intron variant C/T snv 3.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs17249141
rs17249141
LDLR
4 19 11089332 upstream gene variant C/T snv 3.3E-03 0.700 1.000 1 2013 2013
dbSNP: rs17404153
rs17404153
DNAJC13
5 3 132444356 intron variant G/T snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs2030746
rs2030746
LOC105373585
5 0.925 0.120 2 120551912 downstream gene variant C/T snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs2328223
rs2328223 		3 20 17865277 intergenic variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs267733
rs267733
ANXA9
2 1 150986360 missense variant A/G snv 0.12 0.12 0.700 1.000 1 2013 2013
dbSNP: rs2710642
rs2710642
EHBP1
3 2 62922422 intron variant G/A snv 0.72 0.700 1.000 1 2013 2013
dbSNP: rs314253
rs314253
DLG4
4 17 7188331 downstream gene variant T/C snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs364585
rs364585
LINC01723
2 20 12982070 intron variant A/G snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs3780181
rs3780181
VLDLR ; VLDLR-AS1
4 1.000 0.320 9 2640759 intron variant A/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs4245791
rs4245791
ABCG8
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs4253772
rs4253772
PPARA
3 22 46231706 intron variant C/T snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs4530754
rs4530754
CSNK1G3
3 5 123519722 intron variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs4722551
rs4722551
LOC105375199
5 7 25952206 upstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs4942486
rs4942486
BRCA2
2 13 32379251 intron variant T/C snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs5763662
rs5763662
MTMR3
2 22 29982714 non coding transcript exon variant C/T snv 3.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs579459
rs579459 		28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.700 1.000 1 2013 2013