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: rs6968865
rs6968865
1 7 17247645 5 prime UTR variant A/T snv 0.54 0.020 1.000 2 2012 2016
dbSNP: rs10252701
rs10252701
1 7 17240889 intron variant A/C snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs10772420
rs10772420
1 12 11021677 missense variant G/A snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs16851030
rs16851030
1 1 203166324 3 prime UTR variant C/T snv 7.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs2597979
rs2597979
1 12 11037367 intron variant G/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs2896905
rs2896905
1 12 40099614 intron variant G/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs3032740
rs3032740
1 22 24439073 intron variant TTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2008 2008
dbSNP: rs35694136
rs35694136
1 15 74747272 upstream gene variant T/- del 0.23 0.010 1.000 1 2008 2008
dbSNP: rs68157013
rs68157013
1 12 11092126 missense variant C/G snv 0.69 0.27 0.010 1.000 1 2014 2014
dbSNP: rs71443637
rs71443637
1 12 11091595 missense variant T/C snv 0.57 0.28 0.010 1.000 1 2014 2014
dbSNP: rs4998386
rs4998386
2 1.000 0.040 16 9976688 intron variant C/T snv 0.11 0.020 0.500 2 2014 2018
dbSNP: rs1350882940
rs1350882940
2 1.000 0.040 8 86507057 missense variant T/A snv 1.4E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs1401116572
rs1401116572
2 1.000 0.080 1 237441382 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1415931588
rs1415931588
2 1.000 0.080 1 237377426 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs193922790
rs193922790
2 1.000 0.040 19 38494621 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs193922807
rs193922807
2 1.000 0.040 19 38499731 missense variant G/C snv 0.010 1.000 1 2003 2003
dbSNP: rs193922888
rs193922888
2 1.000 0.040 19 38584976 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2472299
rs2472299
2 1.000 0.040 15 74741059 intergenic variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs781216400
rs781216400
2 1.000 0.040 15 40740173 missense variant C/G;T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs11724635
rs11724635
3 0.925 0.080 4 15735478 intron variant C/A;G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs118192164
rs118192164
3 0.925 0.080 19 38525455 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121918593
rs121918593
3 0.925 0.040 19 38499993 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs142310826
rs142310826
3 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs193922802
rs193922802
3 0.925 0.040 19 38499655 missense variant G/A snv 0.010 1.000 1 2001 2001