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: rs1555273567
rs1555273567
1 1.000 0.120 13 76992116 frameshift variant C/- del 0.700 0
dbSNP: rs1057516814
rs1057516814
1 1.000 0.120 13 76992171 frameshift variant TC/G delins 0.700 0
dbSNP: rs764790770
rs764790770
1 1.000 0.120 13 76992175 stop gained G/A;C snv 2.2E-04 2.8E-05 0.700 0
dbSNP: rs104894385
rs104894385
2 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 0.700 1.000 2 2000 2002
dbSNP: rs200348035
rs200348035
1 1.000 0.120 13 76992182 stop gained G/A;T snv 4.5E-06 0.700 0
dbSNP: rs1555273609
rs1555273609
1 1.000 0.120 13 76992215 frameshift variant G/- delins 0.700 0
dbSNP: rs780198002
rs780198002
1 1.000 0.120 13 76992229 frameshift variant TC/- delins 9.5E-06 0.700 0
dbSNP: rs386833970
rs386833970
1 1.000 0.120 13 76992238 frameshift variant -/C delins 0.700 0
dbSNP: rs1057517134
rs1057517134
1 1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins 0.700 0
dbSNP: rs104894386
rs104894386
2 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 0.800 1.000 10 1998 2015
dbSNP: rs1555273882
rs1555273882
1 1.000 0.120 13 76995079 frameshift variant C/- delins 0.700 0
dbSNP: rs267606738
rs267606738
1 1.000 0.120 13 76995119 missense variant G/A snv 0.700 0
dbSNP: rs386833971
rs386833971
1 1.000 0.120 13 76995175 stop gained C/T snv 2.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs202146713
rs202146713
1 1.000 0.120 13 76995233 splice region variant G/C snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1057516390
rs1057516390
1 1.000 0.120 13 76995901 splice acceptor variant G/- del 0.700 0
dbSNP: rs386833972
rs386833972
1 1.000 0.120 13 76995939 stop gained T/G snv 4.0E-06; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs386833973
rs386833973
1 1.000 0.120 13 76995942 frameshift variant -/A ins 0.700 0
dbSNP: rs386833974
rs386833974
1 1.000 0.120 13 76995980 stop gained C/T snv 0.700 0
dbSNP: rs386833975
rs386833975
2 0.925 0.120 13 76995990 missense variant A/G snv 0.800 1.000 10 1998 2015
dbSNP: rs1566219136
rs1566219136
1 1.000 0.120 13 76995993 missense variant G/A snv 0.700 0
dbSNP: rs1555273992
rs1555273992
1 1.000 0.120 13 76995998 frameshift variant T/- delins 0.700 0
dbSNP: rs386833976
rs386833976
1 1.000 0.120 13 76996008 missense variant T/C snv 4.0E-06 0.800 1.000 10 1998 2015
dbSNP: rs546989392
rs546989392
2 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs386833977
rs386833977
1 1.000 0.120 13 76996028 missense variant C/T snv 0.800 1.000 10 1998 2015
dbSNP: rs147065248
rs147065248
1 1.000 0.120 13 76996034 missense variant T/C snv 1.2E-05 7.0E-06 0.700 0