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: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs776969714
rs776969714
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs758022116
rs758022116
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs587778779
rs587778779
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs553522118
rs553522118
5 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0
dbSNP: rs878853324
rs878853324
5 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
dbSNP: rs878853322
rs878853322
4 0.925 0.160 1 40078573 missense variant G/A snv 0.700 0
dbSNP: rs878855331
rs878855331
5 0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 0.700 0
dbSNP: rs753614067
rs753614067
3 1.000 0.080 11 61955870 missense variant C/G snv 3.3E-05 1.4E-05 0.700 0