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: rs1172046
rs1172046 		1 X 104498570 intergenic variant G/A snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs136047
rs136047 		1 22 45868501 intergenic variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2294196
rs2294196
KIAA0930
1 22 45234781 intron variant C/T snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs5758667
rs5758667
TCF20
1 22 42237198 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs79966207
rs79966207
PLXNB2
1 22 50283979 missense variant T/C snv 0.12 0.12 0.700 1.000 1 2018 2018
dbSNP: rs9611155
rs9611155 		1 22 39343182 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2014791
rs2014791
LINC01425
1 21 21773630 intron variant T/C snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs2829786
rs2829786
LOC105372753
1 21 25506330 regulatory region variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs672948
rs672948 		1 21 43373568 regulatory region variant A/T snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs73220980
rs73220980
LINC00322
1 21 43332888 upstream gene variant G/A snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs1015362
rs1015362 		3 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.700 1.000 1 2008 2008
dbSNP: rs1036464
rs1036464 		1 20 59266631 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2424995
rs2424995
PIGU
1 20 34576711 intron variant T/A snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs259960
rs259960
ZNF831
1 20 59251107 intron variant A/G snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs291671
rs291671
CDK5RAP1
2 1.000 0.040 20 33363039 intron variant G/A snv 0.92 0.800 1.000 1 2010 2010
dbSNP: rs4911414
rs4911414 		5 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 0.700 1.000 1 2008 2008
dbSNP: rs55901013
rs55901013
BCAS1
1 20 54026254 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 1 2018 2018
dbSNP: rs6127868
rs6127868 		1 20 56834037 regulatory region variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs12602
rs12602
TMEM91
1 19 41383843 synonymous variant T/C snv 0.59 0.67 0.700 1.000 1 2018 2018
dbSNP: rs2009984
rs2009984
RPS11
1 19 49498620 intron variant T/A snv 7.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs7247700
rs7247700
KIR3DL3 ; KIR2DP1
1 19 54763882 intron variant A/C;G;T snv 5.8E-06; 0.37; 1.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs1186238
rs1186238
AQP4 ; AQP4-AS1
1 18 26857540 intron variant A/C snv 0.700 1.000 1 2018 2018
dbSNP: rs117612447
rs117612447
KRT31
1 17 41394847 splice donor variant C/G;T snv 4.0E-06; 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs140814701
rs140814701 		1 17 41335727 non coding transcript exon variant G/A snv 3.8E-02 0.700 1.000 1 2018 2018