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: rs72823641
rs72823641
4 0.882 0.080 2 102319699 intron variant T/A;C snv 0.700 1.000 3 2018 2019
dbSNP: rs7928663
rs7928663
1 1.000 0.080 11 102321236 intron variant C/T snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs12479210
rs12479210
2 1.000 0.080 2 102332701 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7127583
rs7127583
1 1.000 0.080 11 102334306 intron variant T/C snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs3771180
rs3771180
2 1.000 0.080 2 102337157 5 prime UTR variant G/A;T snv 0.820 1.000 4 2011 2019
dbSNP: rs3460
rs3460
1 1.000 0.080 11 102337659 3 prime UTR variant G/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs13431828
rs13431828
3 0.925 0.160 2 102338193 5 prime UTR variant C/T snv 0.18 0.700 1.000 2 2010 2011
dbSNP: rs13408569
rs13408569
2 1.000 0.080 2 102338596 intron variant G/C snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs13408661
rs13408661
2 1.000 0.080 2 102338622 intron variant G/A snv 0.18 0.810 1.000 2 2011 2012
dbSNP: rs1041973
rs1041973
1 1.000 0.080 2 102339008 missense variant C/A snv 0.23 0.30 0.010 1.000 1 2011 2011
dbSNP: rs10173081
rs10173081
2 1.000 0.080 2 102340888 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs1420101
rs1420101
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.710 1.000 3 2018 2019
dbSNP: rs3771175
rs3771175
3 0.925 0.080 2 102343750 3 prime UTR variant T/A snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs201256810
rs201256810
2 0.925 0.080 2 102348073 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs10208293
rs10208293
4 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.700 1.000 2 2016 2019
dbSNP: rs10197862
rs10197862
3 0.925 0.120 2 102350089 intron variant A/G snv 0.18 0.810 1.000 3 2011 2014
dbSNP: rs1861245
rs1861245
2 0.925 0.080 2 102350446 intron variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs10204137
rs10204137
2 0.925 0.160 2 102351752 missense variant A/G;T snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs10192157
rs10192157
2 1.000 0.080 2 102351896 missense variant C/T snv 0.34 0.46 0.710 1.000 2 2010 2020
dbSNP: rs10206753
rs10206753
2 1.000 0.080 2 102351902 missense variant T/C;G snv 0.34; 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs9807989
rs9807989
2 1.000 0.080 2 102354740 intron variant T/C;G snv 0.46 0.800 1.000 1 2012 2012
dbSNP: rs3755276
rs3755276
3 0.925 0.120 2 102361999 intron variant C/T snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs1362348
rs1362348
2 1.000 0.080 2 102368164 intron variant C/G snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs3771166
rs3771166
2 1.000 0.080 2 102369762 intron variant G/A;T snv 0.810 1.000 3 2010 2012
dbSNP: rs2241116
rs2241116
1 1.000 0.080 2 102386805 intron variant C/A;T snv 0.700 1.000 1 2019 2019