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: rs12030991
rs12030991
2 1.000 0.040 1 106683737 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12068879
rs12068879
2 1.000 0.040 1 14959860 intron variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs12137398
rs12137398
2 1.000 0.040 1 7730488 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs12137936
rs12137936
2 1.000 0.040 1 72254674 intron variant C/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs12420205
rs12420205
2 1.000 0.040 11 113523313 intergenic variant C/T snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs12457157
rs12457157
2 1.000 0.040 18 55629696 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs1261070
rs1261070
2 1.000 0.040 18 55235854 intron variant A/G snv 0.94 0.700 1.000 1 2018 2018
dbSNP: rs1261114
rs1261114
2 1.000 0.040 18 55271138 intron variant G/A snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs12938031
rs12938031
6 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs12938775
rs12938775
2 1.000 0.040 17 2671527 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12963463
rs12963463
3 1.000 0.040 18 55431862 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12967855
rs12967855
2 1.000 0.040 18 37558282 intron variant A/G snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs13060816
rs13060816
BBX
2 1.000 0.040 3 107561639 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs13122395
rs13122395
2 1.000 0.040 4 100829496 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs1322281
rs1322281
2 1.000 0.040 9 10582445 intron variant T/C snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs13296664
rs13296664
2 1.000 0.040 9 117684418 downstream gene variant C/T snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs13381817
rs13381817
2 1.000 0.040 18 55230988 non coding transcript exon variant C/T snv 6.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs13413953
rs13413953
2 1.000 0.040 2 143479467 intron variant T/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1360380
rs1360380
2 1.000 0.040 9 23378490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1375194
rs1375194
2 1.000 0.040 2 33601810 intron variant T/C snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs1382119307
rs1382119307
1 6 31116450 missense variant C/G snv 7.0E-06 0.010 1.000 1 2003 2003