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: rs117300835
rs117300835 		2 11 15097429 intergenic variant G/A snv 7.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs117865811
rs117865811
SPON1
2 11 14180763 intron variant A/G snv 6.3E-03 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: rs12287212
rs12287212 		2 11 14428315 intergenic variant C/A snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12800438
rs12800438
NADSYN1
5 1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs182244780
rs182244780
RRAS2
2 11 14363985 intron variant G/A snv 6.0E-03 0.700 1.000 1 2017 2017
dbSNP: rs185378533
rs185378533
FLJ42102
2 11 71422087 intron variant A/G snv 0.68 0.700 1.000 1 2017 2017
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: 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: rs3829251
rs3829251
NADSYN1
8 0.851 0.120 11 71483513 intron variant G/A snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs4423214
rs4423214
NADSYN1
2 11 71462208 intron variant C/T snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs4944062
rs4944062
NADSYN1
2 11 71476248 3 prime UTR variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs55665837
rs55665837
COPB1
2 11 14473503 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7938885
rs7938885
NADSYN1
2 11 71458997 non coding transcript exon variant T/C snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs10745742
rs10745742
AMDHD1
2 12 95964751 intron variant C/T snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs3819817
rs3819817
HAL
2 12 95984993 intron variant C/T snv 0.50 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: rs12868495
rs12868495 		2 13 34067425 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs1410656
rs1410656 		2 13 46968386 intergenic variant T/C snv 0.97 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: 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: rs2302190
rs2302190
MTMR4
3 17 58507147 missense variant T/A;C snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs17216707
rs17216707 		6 20 54115823 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs2207173
rs2207173
LOC105372568
2 20 22824423 intergenic variant G/A snv 0.72 0.700 1.000 1 2016 2016