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: rs727479
rs727479
10 0.790 0.240 15 51242350 intron variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs10514317
rs10514317
3 5 89813933 intergenic variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11688246
rs11688246
2 2 85478554 intergenic variant C/A;T snv 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: rs12751297
rs12751297
3 1 242792261 intergenic variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs151006058
rs151006058
2 15 51223259 intron variant TGAATGAA/-;TGAA;TGAATGAATGAA;TGAATGAATGAATGAA;TGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAATGAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1625895
rs1625895
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.700 1.000 1 2012 2012
dbSNP: rs2053480
rs2053480
2 8 97266723 intergenic variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs35198051
rs35198051
3 11 71134158 intron variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs35679777
rs35679777
2 6 67324567 intergenic variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs36019094
rs36019094
3 5 40237272 upstream gene variant C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs371768722
rs371768722
2 17 49368390 intron variant AAATAAATAAATAAATAAAT/-;AAAT;AAATAAAT;AAATAAATAAAT;AAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAAT delins 0.700 1.000 1 2012 2012
dbSNP: rs597800
rs597800
2 2 31251376 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6077414
rs6077414
2 20 8723905 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs6258
rs6258
5 1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03 0.700 1.000 1 2012 2012
dbSNP: rs7910927
rs7910927
3 10 63379150 intron variant T/A;G snv 0.700 1.000 1 2012 2012
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: rs575315089
rs575315089
2 12 94289428 intron variant -/T delins 2.2E-03 0.700 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: rs16832889
rs16832889
2 3 182133496 intron variant A/C snv 1.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs4902141
rs4902141
2 14 62501677 intergenic variant T/C snv 2.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs4699587
rs4699587
2 4 94694618 intron variant A/G snv 4.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs12118390
rs12118390
2 1 80445429 intergenic variant G/A snv 5.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs7072122
rs7072122
2 10 44539224 intergenic variant C/T snv 5.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs9901675
rs9901675
5 17 7581494 missense variant G/A snv 5.4E-02 5.5E-02 0.700 1.000 1 2012 2012