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: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1563945076
rs1563945076
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs28934907
rs28934907
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs797045283
rs797045283
11 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
dbSNP: rs868064163
rs868064163
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1164174661
rs1164174661
3 0.925 0.120 19 13283358 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs80338848
rs80338848
6 0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 0.010 1.000 1 2019 2019