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: rs10454142
rs10454142
3 2 48419260 intergenic variant T/C snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs10501858
rs10501858
2 11 126160720 non coding transcript exon variant G/A snv 7.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs10514317
rs10514317
3 5 89813933 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10515260
rs10515260
2 5 97740844 downstream gene variant T/C snv 6.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs11107531
rs11107531
2 12 94407545 intron variant C/T snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs11688246
rs11688246
2 2 85478554 intergenic variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs117585797
rs117585797
3 12 5902324 intron variant C/A snv 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs12118390
rs12118390
2 1 80445429 intergenic variant G/A snv 5.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs12565140
rs12565140
2 1 33463157 upstream gene variant T/C snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs12620464
rs12620464
2 2 101413184 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs12739262
rs12739262
3 1 202422615 splice region variant C/T snv 1.5E-04 7.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs12751297
rs12751297
3 1 242792261 intergenic variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs12913657
rs12913657
2 15 50708771 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs12978500
rs12978500
3 19 406934 3 prime UTR variant C/A snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs1348184
rs1348184
2 8 97264684 intergenic variant C/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs1431891
rs1431891
2 8 97270488 downstream gene variant A/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs151006058
rs151006058
2 15 51223259 intron variant TGAATGAA/-;TGAA;TGAATGAATGAA;TGAATGAATGAATGAA;TGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAATGAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1573036
rs1573036
3 X 110576840 intergenic variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs1641537
rs1641537
3 17 7642403 upstream gene variant T/C snv 0.75 0.700 1.000 1 2012 2012
dbSNP: rs16832889
rs16832889
2 3 182133496 intron variant A/C snv 1.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs16906958
rs16906958
2 8 79608410 upstream gene variant G/A snv 6.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs17042688
rs17042688
2 2 52284656 intron variant G/T snv 8.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs17496332
rs17496332
3 1 107003753 intergenic variant A/G snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1835743
rs1835743
2 8 97270415 downstream gene variant T/C snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs1864729
rs1864729
2 8 97269961 downstream gene variant G/A snv 0.18 0.800 1.000 1 2013 2013