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: rs10118776
rs10118776
1 1.000 0.080 9 6227418 intron variant G/A snv 0.94 0.700 1.000 1 2017 2017
dbSNP: rs114033761
rs114033761
1 1.000 0.080 6 31093784 regulatory region variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs117729306
rs117729306
1 1.000 0.080 11 8465623 non coding transcript exon variant T/C snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs121913295
rs121913295
RB1
1 1.000 0.080 13 48463741 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs12200782
rs12200782
1 1.000 0.080 6 26402808 intron variant C/G snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs12666409
rs12666409
DDC
1 1.000 0.080 7 50567279 upstream gene variant T/A snv 0.21 0.010 1.000 1 2020 2020
dbSNP: rs12981718
rs12981718
1 1.000 0.080 19 54064604 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs140013431
rs140013431
1 1.000 0.080 6 7770278 intron variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs141670911
rs141670911
1 1.000 0.080 6 26581030 intergenic variant A/T snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs141877527
rs141877527
1 1.000 0.080 10 33497992 intergenic variant A/G snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs17185553
rs17185553
1 1.000 0.080 9 17934122 intron variant G/C snv 6.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs1778335
rs1778335
1 1.000 0.080 10 22643219 intron variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs312599
rs312599
1 1.000 0.080 5 143998425 intergenic variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs3134425
rs3134425
1 1.000 0.080 11 122838470 intron variant T/C snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs587781495
rs587781495
1 1.000 0.080 17 7676005 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs716274
rs716274
1 1.000 0.080 11 103547430 intergenic variant A/G snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs74501188
rs74501188
1 1.000 0.080 5 90931162 5 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs7519667
rs7519667
1 1.000 0.080 1 241722005 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs775800262
rs775800262
1 1.000 0.080 7 55155894 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs8049634
rs8049634
1 1.000 0.080 16 84192073 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs9308062
rs9308062
1 1.000 0.080 4 163517048 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1429133479
rs1429133479
1 1.000 0.080 22 25847461 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs750078923
rs750078923
1 1.000 0.080 22 25769052 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs1360583020
rs1360583020
PXN
2 1.000 0.080 12 120215202 missense variant G/C snv 4.3E-06 0.010 1.000 1 2003 2003
dbSNP: rs942190
rs942190
2 1.000 0.080 14 89956320 intron variant T/C snv 0.37 0.010 1.000 1 2017 2017