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: rs118192212
rs118192212
6 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1555869758
rs1555869758
3 1.000 0.040 20 63438654 missense variant T/C snv 0.700 0
dbSNP: rs1568925507
rs1568925507
5 1.000 20 63438654 inframe insertion -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC delins 0.700 0
dbSNP: rs1568927820
rs1568927820
1 20 63439686 missense variant T/C snv 0.700 0
dbSNP: rs397514582
rs397514582
4 0.925 20 63439656 missense variant C/A;T snv 0.700 0
dbSNP: rs794727134
rs794727134
3 0.925 0.080 20 63414092 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs794727740
rs794727740
3 0.925 0.040 20 63442429 missense variant C/G;T snv 0.700 0
dbSNP: rs794727741
rs794727741
1 20 63442521 missense variant G/A snv 0.700 0
dbSNP: rs886041339
rs886041339
3 0.925 0.040 20 63424195 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs74315390
rs74315390
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.710 1.000 9 1993 2016
dbSNP: rs118192226
rs118192226
3 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 1.000 6 1984 2015
dbSNP: rs1568940442
rs1568940442
1 20 63444765 missense variant G/A snv 0.700 1.000 5 2007 2015
dbSNP: rs1555850151
rs1555850151
2 1.000 20 63406659 frameshift variant -/GCCCA delins 0.700 1.000 3 2003 2014
dbSNP: rs796052653
rs796052653
3 0.925 20 63413526 missense variant C/A;T snv 0.700 1.000 3 2013 2015
dbSNP: rs587777219
rs587777219
3 0.925 20 63442428 missense variant G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs1085307920
rs1085307920
1 20 63444805 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs117067974
rs117067974
5 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs118192211
rs118192211
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs28939683
rs28939683
3 0.925 0.080 20 63439674 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs761188359
rs761188359
1 20 63408469 missense variant C/A;G;T snv 1.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs796052650
rs796052650
4 0.925 0.040 20 63413574 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs797044938
rs797044938
2 20 63442529 missense variant C/A;G snv 0.700 1.000 1 2016 2016