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: rs117865811
rs117865811
SPON1
2 11 14180763 intron variant A/G snv 6.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs182244780
rs182244780
RRAS2
2 11 14363985 intron variant G/A snv 6.0E-03 0.700 1.000 1 2017 2017
dbSNP: rs12287212
rs12287212 		2 11 14428315 intergenic variant C/A snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs55665837
rs55665837
COPB1
2 11 14473503 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1007392
rs1007392
PDE3B
2 11 14753045 intron variant A/G snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs11023332
rs11023332
PDE3B
2 11 14762564 intron variant G/C snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs116970203
rs116970203
PDE3B
2 11 14855172 intron variant G/A snv 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs117913124
rs117913124
CYP2R1
2 11 14879385 synonymous variant G/A snv 1.7E-02 1.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs1993116
rs1993116
CYP2R1
8 0.827 0.200 11 14888688 intron variant A/G snv 0.65 0.700 1.000 1 2010 2010
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs2060793
rs2060793
CYP2R1
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.800 1.000 1 2010 2010
dbSNP: rs117300835
rs117300835 		2 11 15097429 intergenic variant G/A snv 7.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs11586313
rs11586313 		2 1 152917994 TF binding site variant G/A;C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs79666294
rs79666294 		2 5 155047146 regulatory region variant C/T snv 2.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs6730714
rs6730714 		2 2 222184302 intergenic variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2207173
rs2207173
LOC105372568
2 20 22824423 intergenic variant G/A snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs156299
rs156299
LOC107986777
2 7 24185113 intergenic variant T/G snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs12868495
rs12868495 		2 13 34067425 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs8018720
rs8018720
SEC23A
2 14 39086981 missense variant G/C;T snv 0.80; 1.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs2277458
rs2277458
GEMIN2 ; LOC105370459
2 14 39114277 5 prime UTR variant A/G snv 0.80 0.83 0.700 1.000 1 2017 2017
dbSNP: rs719700
rs719700 		2 12 45635426 intergenic variant T/C snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs1410656
rs1410656 		2 13 46968386 intergenic variant T/C snv 0.97 0.700 1.000 1 2018 2018
dbSNP: rs6127099
rs6127099 		5 20 54114863 intergenic variant A/T snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs17216707
rs17216707 		6 20 54115823 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs2302190
rs2302190
MTMR4
3 17 58507147 missense variant T/A;C snv 0.24 0.700 1.000 1 2014 2014