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: rs137853063
rs137853063
4 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs713993043
rs713993043
2 0.925 0.080 14 101980380 missense variant G/A;T snv 0.710 1.000 1 2015 2015
dbSNP: rs141760116
rs141760116
3 0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 1.000 3 2008 2015
dbSNP: rs1561503058
rs1561503058
1 1.000 0.040 5 70951920 splice acceptor variant CTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT/- del 0.700 1.000 3 2000 2008
dbSNP: rs1217001154
rs1217001154
1 1.000 0.040 5 70951940 splice acceptor variant G/A snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1170466474
rs1170466474
3 1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05 0.700 0
dbSNP: rs1554082383
rs1554082383
1 1.000 0.040 5 70951956 frameshift variant -/A delins 0.700 0
dbSNP: rs746361190
rs746361190
4 0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs770905160
rs770905160
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs794727634
rs794727634
2 0.925 0.040 14 101979952 missense variant G/A snv 0.700 0
dbSNP: rs104893922
rs104893922
3 0.925 0.080 5 70946157 missense variant A/G snv 0.040 1.000 4 1997 2002
dbSNP: rs1428103360
rs1428103360
2 1.000 0.040 5 70070732 missense variant A/G snv 0.040 1.000 4 1997 2002
dbSNP: rs121909192
rs121909192
3 0.925 0.080 5 70076545 missense variant G/C snv 3.3E-03 2.2E-03 0.030 1.000 3 2009 2010
dbSNP: rs79784540
rs79784540
2 0.925 0.080 5 70944713 stop gained T/A snv 0.020 1.000 2 2013 2016
dbSNP: rs104893935
rs104893935
3 0.882 0.080 5 70942416 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1171108843
rs1171108843
2 0.925 0.040 11 65079421 stop lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1266703941
rs1266703941
2 0.925 0.080 13 37002522 missense variant G/A;C snv 8.2E-06; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1389068504
rs1389068504
2 1.000 0.040 14 36684834 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs145873635
rs145873635
4 0.851 0.160 8 18075541 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1472645065
rs1472645065
1 1.000 0.040 5 70951968 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs199714029
rs199714029
2 0.925 0.040 9 134886483 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs371707778
rs371707778
2 0.925 0.040 9 92717947 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs387907196
rs387907196
12 0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs398123029
rs398123029
2 0.925 0.040 9 92722699 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs730880031
rs730880031
7 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016