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: rs201921722
rs201921722
3 0.925 0.040 11 123679999 downstream gene variant -/A delins 9.2E-06 0.700 1.000 1 2016 2016
dbSNP: rs34177316
rs34177316
3 0.925 0.040 4 40985283 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11039409
rs11039409
2 1.000 0.040 11 47814169 intron variant A/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.010 1.000 1 2014 2014
dbSNP: rs56403421
rs56403421
2 1.000 0.040 18 55098052 regulatory region variant A/C snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs600011
rs600011
BBX
2 1.000 0.040 3 107576545 intron variant A/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs72788286
rs72788286
2 1.000 0.040 2 23875451 intron variant A/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs77607745
rs77607745
2 1.000 0.040 13 69001052 intergenic variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs9370822
rs9370822
7 0.882 0.120 6 15544505 intron variant A/C snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs878567
rs878567
4 0.882 0.040 5 63960164 intron variant A/C;G snv 0.020 1.000 2 2010 2013
dbSNP: rs1875560
rs1875560
DCC
2 1.000 0.040 18 53434318 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4713916
rs4713916
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.020 1.000 2 2011 2017
dbSNP: rs9930139
rs9930139
2 1.000 0.040 16 7239569 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.090 0.889 9 2009 2019
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.020 < 0.001 2 2010 2011
dbSNP: rs11039149
rs11039149
6 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs11123857
rs11123857
2 2 100987350 non coding transcript exon variant A/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2006 2006
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: 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: rs1261070
rs1261070
2 1.000 0.040 18 55235854 intron variant A/G snv 0.94 0.700 1.000 1 2018 2018
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: rs12967855
rs12967855
2 1.000 0.040 18 37558282 intron variant A/G snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019