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: rs3819817
rs3819817
HAL
2 12 95984993 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
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: rs6127099
rs6127099 		5 20 54114863 intergenic variant A/T snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs6730714
rs6730714 		2 2 222184302 intergenic variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs719700
rs719700 		2 12 45635426 intergenic variant T/C snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs78862524
rs78862524
ADAMTS3
3 4 72305473 intron variant C/A snv 3.9E-02 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: rs79666294
rs79666294 		2 5 155047146 regulatory region variant C/T snv 2.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs79761689
rs79761689 		2 4 72005565 intergenic variant T/C snv 3.7E-02 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: rs843005
rs843005
GC
2 4 71750610 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.700 1.000 2 2017 2018
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: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.800 1.000 4 2010 2018
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: 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: 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: 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: rs11234027
rs11234027
NADSYN1
5 0.882 0.080 11 71523061 intron variant G/A snv 0.24 0.700 1.000 1 2010 2010
dbSNP: rs1155563
rs1155563
GC
4 0.925 0.080 4 71777771 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs17467825
rs17467825 		4 0.925 0.080 4 71739800 downstream gene variant A/G snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs3755967
rs3755967
GC
6 0.925 0.080 4 71743681 intron variant C/A;T snv 0.700 1.000 1 2018 2018