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: rs222054
rs222054
1 1.000 0.040 4 71738582 downstream gene variant C/G snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs643608
rs643608
2 0.925 0.080 21 43348682 intergenic variant C/T snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs698718
rs698718
1 1.000 0.040 16 68526282 upstream gene variant A/C;G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs10272006
rs10272006
SP4
3 0.925 0.080 7 21480514 intron variant G/A snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs117542855
rs117542855
1 1.000 0.040 11 1635713 regulatory region variant C/G;T snv 3.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11794552
rs11794552
1 1.000 0.040 9 131344938 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs11820744
rs11820744
2 1.000 0.040 11 3147308 intron variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs11976006
rs11976006
3 1.000 0.040 7 28691895 intron variant G/A snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1227756
rs1227756
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs12373751
rs12373751
1 1.000 0.040 2 212072166 intron variant T/C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs139271658
rs139271658
2 1.000 0.040 9 9797383 intron variant A/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs1881396
rs1881396
1 1.000 0.040 2 27621734 3 prime UTR variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1953124
rs1953124
1 1.000 0.040 13 65771915 regulatory region variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs206833
rs206833
3 1.000 0.040 2 31485750 intergenic variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs2235776
rs2235776
3 0.925 0.040 22 43982119 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2294915
rs2294915
5 1.000 0.040 22 43945024 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2668423
rs2668423
1 1.000 0.040 19 1370527 intron variant T/G snv 0.73 0.700 1.000 1 2018 2018
dbSNP: rs2710833
rs2710833
2 0.925 0.080 4 168488807 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs2980888
rs2980888
2 1.000 0.040 8 125495066 intron variant T/C snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs4808199
rs4808199
5 1.000 0.040 19 19434290 intron variant G/A;T snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs497408
rs497408
1 1.000 0.040 6 23993395 regulatory region variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6006611
rs6006611
1 1.000 0.040 22 44004818 intron variant G/A snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs6128907
rs6128907
1 1.000 0.040 20 38759219 intron variant T/C snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs62141163
rs62141163
2 1.000 0.040 2 31440248 regulatory region variant G/A snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs6487679
rs6487679
2 0.925 0.080 12 9218736 intergenic variant C/T snv 0.80 0.700 1.000 1 2010 2010