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: rs2072560
rs2072560
5 11 116791110 missense variant T/C snv 0.89 0.94 0.700 1.000 1 2012 2012
dbSNP: rs2266788
rs2266788
19 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 0.700 1.000 1 2012 2012
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 6 2009 2013
dbSNP: rs12285095
rs12285095
4 11 116787315 non coding transcript exon variant T/G snv 9.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs12286037
rs12286037
6 1.000 0.040 11 116781491 intron variant C/T snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs2075290
rs2075290
10 0.882 0.160 11 116782580 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2809270
rs2809270
2 9 72360220 splice region variant T/A;C snv 0.99 0.700 1.000 1 2012 2012
dbSNP: rs7516521
rs7516521
2 1 112512314 intron variant T/G snv 7.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs7122226
rs7122226
2 11 119081014 intron variant A/G snv 4.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs1000879
rs1000879
3 2 218439407 intron variant G/A snv 4.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs6726798
rs6726798
3 2 218436132 intron variant A/C snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs1874148
rs1874148
VCL
6 10 74114657 intron variant A/G snv 1.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs181362
rs181362
3 22 21577779 intron variant C/T snv 0.31 0.700 1.000 2 2010 2013
dbSNP: rs2070628
rs2070628
2 12 124913971 splice region variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11873890
rs11873890
4 18 662135 intron variant A/G snv 8.2E-03 3.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs581080
rs581080
3 9 15305380 intron variant G/C snv 0.72 0.700 1.000 2 2010 2013
dbSNP: rs471364
rs471364
3 1.000 0.040 9 15289580 intron variant C/T snv 0.87 0.700 1.000 1 2009 2009
dbSNP: rs643531
rs643531
2 9 15296036 intron variant C/A snv 0.89 0.700 1.000 1 2010 2010
dbSNP: rs2293889
rs2293889
2 8 115586972 intron variant T/C;G snv 2.0E-04; 0.65 0.700 1.000 2 2010 2013
dbSNP: rs11921179
rs11921179
TRH
5 3 129976195 intron variant G/A snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs7901017
rs7901017
2 10 17192393 intron variant T/C snv 6.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs17243641
rs17243641
5 9 136886986 intron variant G/T snv 2.6E-03 0.700 1.000 1 2012 2012
dbSNP: rs8078476
rs8078476
2 17 7677910 intron variant G/A snv 4.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 2 2012 2013
dbSNP: rs157580
rs157580
14 0.882 0.160 19 44892009 intron variant G/A snv 0.69 0.700 1.000 1 2009 2009