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: rs863223740
rs863223740
1 1.000 15 67181385 missense variant G/A snv 0.700 1.000 8 1999 2019
dbSNP: rs1553631693
rs1553631693
1 1.000 3 30688383 splice acceptor variant G/A snv 0.700 1.000 4 2006 2010
dbSNP: rs1156984408
rs1156984408
1 1.000 15 48481682 missense variant C/T snv 4.0E-06 2.1E-05 0.700 1.000 2 2014 2019
dbSNP: rs387906850
rs387906850
2 0.925 15 67181441 missense variant C/T snv 0.700 1.000 2 2011 2015
dbSNP: rs768713596
rs768713596
1 1.000 15 67164965 stop gained C/T snv 8.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs863223754
rs863223754
1 1.000 15 67184843 frameshift variant -/C delins 0.700 1.000 2 2011 2014
dbSNP: rs876657852
rs876657852
2 0.925 5 122074155 missense variant A/C snv 0.700 1.000 2 2016 2016
dbSNP: rs886039106
rs886039106
1 1.000 3 30672361 missense variant G/A snv 0.700 1.000 2 2013 2016
dbSNP: rs1554700672
rs1554700672
1 1.000 9 99138065 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1566891701
rs1566891701
1 1.000 15 48421675 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs1566999423
rs1566999423
1 1.000 15 67181318 frameshift variant -/GACA delins 0.700 1.000 1 2019 2019
dbSNP: rs1566999601
rs1566999601
1 1.000 15 67181430 missense variant T/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1566999610
rs1566999610
1 1.000 15 67181433 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs387906697
rs387906697
2 1.000 9 99146594 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs730880147
rs730880147
1 1.000 16 15726938 inframe deletion CTT/- delins 4.8E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs764203302
rs764203302
1 1.000 15 48452612 missense variant C/T snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs863223854
rs863223854
1 1.000 3 30691459 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs886039176
rs886039176
1 1.000 9 99149250 missense variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs886039177
rs886039177
1 1.000 15 67187446 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs1057524497
rs1057524497
1 1.000 9 99138017 stop gained G/A;T snv 0.700 0
dbSNP: rs1060500770
rs1060500770
1 1.000 15 67184755 frameshift variant -/GG delins 0.700 0
dbSNP: rs1060500771
rs1060500771
1 1.000 15 67166854 splice donor variant G/T snv 0.700 0
dbSNP: rs1060500773
rs1060500773
1 1.000 15 67165278 frameshift variant CACAC/- delins 0.700 0
dbSNP: rs1060501984
rs1060501984
1 1.000 3 30691426 stop gained C/T snv 0.700 0
dbSNP: rs1060502040
rs1060502040
1 1.000 9 99132634 stop gained C/T snv 0.700 0