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: rs10035432
rs10035432
1 1.000 0.040 5 147855193 upstream gene variant G/A snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1047100
rs1047100
1 1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78 0.010 1.000 1 2013 2013
dbSNP: rs10786938
rs10786938
1 1.000 0.040 10 106280012 intergenic variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs115336889
rs115336889
1 1.000 0.040 5 10454257 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs141179786
rs141179786
1 1.000 0.040 18 53662174 intergenic variant A/G;T snv 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs16902947
rs16902947
1 1.000 0.040 5 36308995 intergenic variant A/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2710383
rs2710383
1 1.000 0.040 22 32554983 intron variant G/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs36067435
rs36067435
1 1.000 0.040 4 110180390 intron variant -/TTAT delins 0.700 1.000 1 2019 2019
dbSNP: rs3797177
rs3797177
1 1.000 0.040 5 6666971 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs534957
rs534957
1 1.000 0.040 6 53541553 intron variant G/C snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs6078585
rs6078585
1 1.000 0.040 20 12447612 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6884552
rs6884552
1 1.000 0.040 5 6661853 intron variant C/T snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs12470143
rs12470143
2 0.925 0.080 2 31538488 intron variant C/T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs148678804
rs148678804
2 1.000 0.040 10 22138360 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1638703
rs1638703
2 1.000 0.040 13 50514220 intron variant G/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs200476
rs200476
2 1.000 0.040 6 27800570 intergenic variant A/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs2364480
rs2364480
2 0.925 0.120 12 6386109 synonymous variant C/A;T snv 0.77; 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs3759334
rs3759334
2 0.925 0.120 12 6382842 intron variant G/A snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs6061244
rs6061244
2 1.000 0.040 20 62466597 intron variant G/A;C snv 1.3E-03; 0.38 0.700 1.000 1 2018 2018
dbSNP: rs6561599
rs6561599
2 1.000 0.040 13 50904782 non coding transcript exon variant C/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs677394
rs677394
2 1.000 0.040 5 135271869 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs72878024
rs72878024
2 1.000 0.040 11 199492 missense variant G/A snv 6.4E-02 6.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs78105154
rs78105154
2 0.925 0.080 17 12994991 missense variant G/A snv 3.2E-04 7.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs7906649
rs7906649
2 1.000 0.040 10 22021369 intergenic variant G/A snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs9958656
rs9958656
2 1.000 0.040 18 22324181 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018