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: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064797102
rs1064797102
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1555789019
rs1555789019
5 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0
dbSNP: rs1566785444
rs1566785444
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs199469465
rs199469465
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs875989800
rs875989800
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0
dbSNP: rs879253745
rs879253745
6 0.925 0.240 6 157181040 frameshift variant AA/- delins 0.700 0
dbSNP: rs879253746
rs879253746
6 0.925 0.240 6 157200866 frameshift variant -/T delins 0.700 0
dbSNP: rs879253747
rs879253747
6 0.925 0.240 6 157167101 stop gained C/T snv 0.700 0
dbSNP: rs879253856
rs879253856
6 0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins 0.700 0
dbSNP: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1563686762
rs1563686762
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs864309487
rs864309487
20 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015