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: rs371399726
rs371399726
1 11 72196080 missense variant C/T snv 4.0E-05 5.6E-05 0.020 1.000 2 1999 2000
dbSNP: rs751421713
rs751421713
1 6 151013801 missense variant A/G snv 8.0E-06 0.020 1.000 2 2006 2009
dbSNP: rs1051226
rs1051226
1 1 154157607 3 prime UTR variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10827337
rs10827337
1 10 34202922 intron variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs10925260
rs10925260
MTR
1 1 236884786 intron variant A/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs11247593
rs11247593
1 1 26725589 intron variant G/A snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1141321
rs1141321
1 6 49444720 missense variant C/G;T snv 0.32 0.010 < 0.001 1 2003 2003
dbSNP: rs1203798584
rs1203798584
1 11 72221671 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1212671656
rs1212671656
1 10 133297981 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12218196
rs12218196
1 10 34196864 intron variant T/C snv 2.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1256146
rs1256146
1 14 64453947 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1257122540
rs1257122540
1 4 109539620 missense variant C/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1268970749
rs1268970749
1 11 82838473 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1314974864
rs1314974864
1 1 160419339 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1370179177
rs1370179177
GPI
1 19 34378944 missense variant C/T snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs148512517
rs148512517
1 1 115691354 missense variant G/A;T snv 5.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs150198234
rs150198234
MTR
1 1 236852992 synonymous variant G/A snv 4.0E-06 1.4E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs17187449
rs17187449
1 8 72830736 intron variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs17719944
rs17719944
1 17 28402435 3 prime UTR variant A/G snv 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs17857382
rs17857382
1 14 64449470 missense variant C/G;T snv 4.0E-06; 7.6E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs1956545
rs1956545
1 14 64386187 intron variant C/T snv 0.92 0.010 1.000 1 2015 2015
dbSNP: rs2073817
rs2073817
1 9 133694338 missense variant C/G;T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs2229384
rs2229384
1 6 49457808 synonymous variant C/T snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs2276731
rs2276731
1 3 126155545 non coding transcript exon variant C/T snv 0.83 0.83 0.010 1.000 1 2016 2016
dbSNP: rs2298526
rs2298526
1 11 112981742 intron variant T/C snv 0.45 0.010 1.000 1 2005 2005