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: rs386833965
rs386833965
1 1.000 0.120 13 77000817 frameshift variant TT/- del 0.700 0
dbSNP: rs1057516814
rs1057516814
1 1.000 0.120 13 76992171 frameshift variant TC/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: rs386833981
rs386833981
3 0.925 0.120 13 77000517 missense variant T/G snv 0.800 1.000 10 1998 2015
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: 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: rs147065248
rs147065248
1 1.000 0.120 13 76996034 missense variant T/C snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1555274387
rs1555274387
1 1.000 0.120 13 77000883 frameshift variant T/- delins 0.700 1.000 3 2002 2013
dbSNP: rs1555274373
rs1555274373
1 1.000 0.120 13 77000808 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1555273992
rs1555273992
1 1.000 0.120 13 76995998 frameshift variant T/- delins 0.700 0
dbSNP: rs386833966
rs386833966
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 0
dbSNP: rs1555274343
rs1555274343
1 1.000 0.120 13 77000594 frameshift variant GT/- delins 0.700 0
dbSNP: rs386833983
rs386833983
1 1.000 0.120 13 77000695 frameshift variant GGAAATGAAACATCTG/- delins 0.700 0
dbSNP: rs1555274365
rs1555274365
1 1.000 0.120 13 77000729 frameshift variant GGAA/- delins 0.700 0
dbSNP: rs1555274312
rs1555274312
1 1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 0.700 0
dbSNP: rs121908292
rs121908292
1 1.000 0.120 13 77000799 stop gained G/T snv 0.700 1.000 2 2008 2013
dbSNP: rs764495616
rs764495616
1 1.000 0.120 13 77000685 stop gained G/C;T snv 0.700 0
dbSNP: rs386833978
rs386833978
1 1.000 0.120 13 76996035 missense variant G/C snv 0.800 1.000 10 1998 2015
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: rs386833968
rs386833968
1 1.000 0.120 13 77000882 stop gained G/A;T snv 4.3E-06 0.700 1.000 10 1998 2015
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: 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: rs1555274338
rs1555274338
2 1.000 0.120 13 77000567 stop gained G/A;C snv 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