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: 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: 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: 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: rs1007392
rs1007392
PDE3B
2 11 14753045 intron variant A/G snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs10485165
rs10485165
LOC105377885
3 6 88403098 intron variant C/G;T snv 0.700 1.000 1 2007 2007
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: rs10745742
rs10745742
AMDHD1
2 12 95964751 intron variant C/T snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs11023332
rs11023332
PDE3B
2 11 14762564 intron variant G/C snv 0.35 0.700 1.000 1 2014 2014
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: rs11586313
rs11586313 		2 1 152917994 TF binding site variant G/A;C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs116970203
rs116970203
PDE3B
2 11 14855172 intron variant G/A snv 2.2E-02 0.700 1.000 1 2017 2017
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: rs12868495
rs12868495 		2 13 34067425 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs13107347
rs13107347
NPFFR2
2 4 72109031 intron variant T/C snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs138485827
rs138485827 		2 4 72166226 intergenic variant C/T snv 5.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1410656
rs1410656 		2 13 46968386 intergenic variant T/C snv 0.97 0.700 1.000 1 2018 2018
dbSNP: rs148189294
rs148189294 		2 4 71575200 downstream gene variant G/A snv 2.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs1526692
rs1526692 		2 4 71713007 intergenic variant A/G snv 0.41 0.700 1.000 1 2018 2018