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: rs10038177
rs10038177
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs10120688
rs10120688
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.710 1.000 2 2012 2012
dbSNP: rs1013278
rs1013278
1 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1015213
rs1015213
6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10152898
rs10152898
1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1020338837
rs1020338837
1 1.000 0.040 3 28340470 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10281637
rs10281637
2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs1035650739
rs1035650739
1 1.000 0.040 19 50362252 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.600 5 2005 2018
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2002 2002
dbSNP: rs10483727
rs10483727
4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs1048661
rs1048661
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.730 1.000 4 2007 2017
dbSNP: rs10505100
rs10505100
1 1.000 0.040 8 107266388 intron variant C/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs1057518844
rs1057518844
2 1.000 0.040 16 3757288 missense variant C/T snv 0.700 0
dbSNP: rs1057518956
rs1057518956
3 0.925 0.080 10 31520308 stop gained C/T snv 0.700 0
dbSNP: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.710 1.000 2 2011 2017
dbSNP: rs10918274
rs10918274
2 1.000 0.040 1 165745179 intron variant T/C snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs10965219
rs10965219
4 0.882 0.080 9 22053688 intron variant A/G snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs11024102
rs11024102
7 0.851 0.040 11 16987058 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs11217878
rs11217878
2 1.000 0.040 11 120469674 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11258194
rs11258194
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.050 0.600 5 2004 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.040 0.500 4 2005 2018
dbSNP: rs113432289
rs113432289
1 1.000 0.040 7 22253498 intron variant A/C snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs113985657
rs113985657
2 1.000 0.040 6 597203 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs116529882
rs116529882
2 0.925 0.040 5 111110280 missense variant G/A snv 7.5E-04 8.9E-04 0.010 1.000 1 2005 2005