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: rs762292772
rs762292772
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs11787216
rs11787216
2 1.000 0.040 8 141605122 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs121912562
rs121912562
2 0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs13294439
rs13294439
2 1.000 0.040 9 23358877 intron variant A/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs1396313317
rs1396313317
1 1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1452075
rs1452075
4 1.000 0.040 3 62495388 intron variant C/T snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs1553518509
rs1553518509
2 1.000 0.040 2 148468916 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1555910143
rs1555910143
2 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561824498
rs1561824498
1 1.000 0.040 5 88752044 splice acceptor variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1564801388
rs1564801388
1 1.000 0.040 10 87864353 5 prime UTR variant -/G delins 0.700 1.000 1 2019 2019
dbSNP: rs1564801473
rs1564801473
1 1.000 0.040 10 87864406 5 prime UTR variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs1564950387
rs1564950387
1 1.000 0.040 11 687909 splice donor variant A/C snv 0.700 1.000 1 2019 2019
dbSNP: rs1565527302
rs1565527302
1 1.000 0.040 11 70485988 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs1567533189
rs1567533189
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs1569305431
rs1569305431
1 1.000 0.040 X 53254702 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1569513495
rs1569513495
1 1.000 0.040 22 50465238 stop gained C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs2388334
rs2388334
5 0.882 0.040 6 98143746 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs2898883
rs2898883
PHB
2 1.000 0.040 17 49405591 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs375712202
rs375712202
1 1.000 0.040 11 124923339 splice donor variant C/T snv 9.6E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs724159978
rs724159978
1 1.000 0.040 17 30998906 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs727504317
rs727504317
6 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs762735676
rs762735676
NF1
1 1.000 0.040 17 31221945 frameshift variant TTT/-;TTTT delins 6.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs796052733
rs796052733
1 1.000 0.040 5 88731773 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs796053483
rs796053483
1 1.000 0.040 16 2060775 missense variant C/G snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs886037776
rs886037776
2 0.925 0.280 9 137817477 stop gained G/A snv 0.700 1.000 1 2016 2016