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: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs10161441
rs10161441
1 12 73136489 intron variant C/T snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs1052053
rs1052053
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2014 2014
dbSNP: rs1060604
rs1060604
1 1 156214477 intron variant T/C snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs10785010
rs10785010
1 12 73157487 upstream gene variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs10879561
rs10879561
1 12 73139547 intron variant A/T snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs10879567
rs10879567
1 12 73156312 upstream gene variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs10879568
rs10879568
1 12 73156497 upstream gene variant C/T snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs10879569
rs10879569
1 12 73157101 upstream gene variant A/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs10879572
rs10879572
1 12 73157791 upstream gene variant C/T snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs11179569
rs11179569
1 12 73153274 intergenic variant G/A;C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs11179580
rs11179580
1 12 73192799 intron variant C/T snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs1137703
rs1137703
1 1 156214667 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11587860
rs11587860
1 1 156187160 downstream gene variant G/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs11655160
rs11655160
1 17 10989753 intergenic variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs12811378
rs12811378
1 12 73160134 intron variant C/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs12813018
rs12813018
1 12 73160218 intron variant T/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs12826112
rs12826112
1 12 73162120 intron variant T/C snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs1516058
rs1516058
1 12 73137889 intron variant T/C snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs1606958
rs1606958
1 12 73266151 intergenic variant C/A snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs1976729
rs1976729
1 12 73159309 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1976730
rs1976730
1 12 73159402 non coding transcript exon variant A/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs2072499
rs2072499
3 1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 0.700 1.000 1 2014 2014