Source: ALL
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: rs502652
rs502652
1 1.000 0.040 5 101043608 intergenic variant C/T snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs1277240795
rs1277240795
OGA
2 1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11191392
rs11191392
1 1.000 0.040 10 102767194 intron variant C/A snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs3740397
rs3740397
1 1.000 0.040 10 102832918 3 prime UTR variant G/C snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs12765002
rs12765002
2 1.000 0.040 10 102875591 intron variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs3740393
rs3740393
10 0.776 0.280 10 102876898 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12260436
rs12260436
1 1.000 0.040 10 102981357 intron variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1890184
rs1890184
1 1.000 0.040 10 102988702 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs77420391
rs77420391
2 1.000 0.040 10 103186066 intron variant G/A snv 8.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs246914
rs246914
1 1.000 0.040 5 103223706 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1163085
rs1163085
INA
1 1.000 0.040 10 103279484 intron variant G/A snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs391236
rs391236
1 1.000 0.040 5 103342372 intergenic variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs2672852
rs2672852
1 1.000 0.040 2 103455652 intergenic variant C/T snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs4526367
rs4526367
1 1.000 0.040 8 10355952 intron variant G/A snv 0.77 0.700 1.000 1 2018 2018
dbSNP: rs10034259
rs10034259
1 1.000 0.040 4 104012596 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs150491901
rs150491901
1 1.000 0.040 8 10468395 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1562927768
rs1562927768
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1826787
rs1826787
1 1.000 0.040 10 105908635 downstream gene variant C/T snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs1426371
rs1426371
3 1.000 0.040 12 108236003 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs4623951
rs4623951
DAO
3 0.925 0.080 12 108878275 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2070587
rs2070587
DAO
5 0.882 0.080 12 108883967 intron variant T/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs2111902
rs2111902
DAO
3 0.925 0.080 12 108884971 intron variant T/A;G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs3741775
rs3741775
DAO
3 0.925 0.080 12 108889827 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs3742020
rs3742020
1 1.000 0.040 12 109445449 non coding transcript exon variant T/C snv 0.33 0.700 1.000 1 2018 2018