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: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.700 1.000 1 2009 2009
dbSNP: rs2073617
rs2073617
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs4242592
rs4242592
1 8 118956736 upstream gene variant T/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs7006553
rs7006553
1 8 118958540 regulatory region variant C/T snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs10505348
rs10505348
1 8 118960457 intergenic variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1385499
rs1385499
1 8 118962469 regulatory region variant G/A snv 0.34 0.700 1.000 1 2009 2009
dbSNP: rs1564860
rs1564860
1 8 118963431 intergenic variant C/T snv 0.34 0.700 1.000 2 2009 2009
dbSNP: rs1485302
rs1485302
1 8 118963905 intergenic variant G/A snv 0.50 0.700 1.000 1 2009 2009
dbSNP: rs1485303
rs1485303
1 8 118964017 intergenic variant G/A snv 0.50 0.700 1.000 1 2009 2009
dbSNP: rs7839059
rs7839059
2 8 118964303 intergenic variant C/A snv 0.40 0.800 1.000 2 2009 2013
dbSNP: rs7014574
rs7014574
1 8 118964838 intergenic variant C/T snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs2062375
rs2062375
2 1.000 0.080 8 118965553 intergenic variant G/C snv 0.65 0.700 1.000 1 2009 2009
dbSNP: rs6992497
rs6992497
1 8 118967830 intergenic variant A/G snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs4876876
rs4876876
1 8 118973996 upstream gene variant T/C snv 0.61 0.700 1.000 1 2009 2009
dbSNP: rs4563920
rs4563920
1 8 118981450 downstream gene variant A/G snv 0.61 0.700 1.000 1 2009 2009
dbSNP: rs11992136
rs11992136
1 8 118991488 upstream gene variant C/G snv 0.61 0.700 1.000 1 2009 2009
dbSNP: rs9969672
rs9969672
1 8 118993841 upstream gene variant T/A snv 0.61 0.700 1.000 1 2009 2009
dbSNP: rs2062377
rs2062377
2 8 118995181 upstream gene variant T/A snv 0.67 0.800 1.000 3 2009 2013
dbSNP: rs2220189
rs2220189
1 8 118995469 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs4567065
rs4567065
1 8 118996035 intron variant C/A snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs6469792
rs6469792
1 8 118996132 intron variant T/C snv 0.62 0.700 1.000 2 2009 2009
dbSNP: rs7842942
rs7842942
1 8 118996348 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs2062376
rs2062376
1 8 118997770 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1485305
rs1485305
1 8 118998281 intron variant A/T snv 0.54 0.700 1.000 1 2009 2009
dbSNP: rs7010043
rs7010043
1 8 118999092 intron variant G/C;T snv 0.700 1.000 1 2009 2009