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: rs387906643
rs387906643
1 1.000 0.240 10 92613045 missense variant C/G snv 0.800 1.000 1 2012 2012
dbSNP: rs1064796738
rs1064796738
5 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014
dbSNP: rs387906642
rs387906642
1 1.000 0.240 10 92649894 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057516208
rs1057516208
1 1.000 0.240 10 92645436 stop gained C/T snv 0.700 0
dbSNP: rs1554859309
rs1554859309
1 1.000 0.240 10 92606297 frameshift variant C/- delins 0.700 0
dbSNP: rs1554859966
rs1554859966
1 1.000 0.240 10 92613455 stop gained C/T snv 0.700 0
dbSNP: rs1554861545
rs1554861545
1 1.000 0.240 10 92628878 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1554862197
rs1554862197
1 1.000 0.240 10 92637444 frameshift variant C/- del 0.700 0
dbSNP: rs1554862218
rs1554862218
1 1.000 0.240 10 92637546 splice donor variant G/T snv 0.700 0
dbSNP: rs1554862427
rs1554862427
1 1.000 0.240 10 92639863 stop gained C/T snv 0.700 0
dbSNP: rs1554863016
rs1554863016
5 0.882 0.240 10 92648211 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1554863201
rs1554863201
1 1.000 0.240 10 92649986 splice region variant G/A snv 0.700 0
dbSNP: rs1554863246
rs1554863246
1 1.000 0.240 10 92650449 frameshift variant -/T delins 0.700 0
dbSNP: rs387906641
rs387906641
1 1.000 0.240 10 92621415 stop gained C/T snv 0.700 0
dbSNP: rs730882061
rs730882061
1 1.000 0.240 10 92616741 frameshift variant CT/- delins 0.700 0
dbSNP: rs730882062
rs730882062
1 1.000 0.240 10 92632583 frameshift variant A/- del 0.700 0
dbSNP: rs730882063
rs730882063
1 1.000 0.240 10 92645644 splice donor variant T/C snv 0.700 0
dbSNP: rs730882121
rs730882121
1 1.000 0.240 10 92645393 frameshift variant TT/- delins 0.700 0
dbSNP: rs730882122
rs730882122
1 1.000 0.240 10 92613376 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs786205900
rs786205900
1 1.000 0.240 10 92630278 stop gained G/T snv 0.700 0
dbSNP: rs797045649
rs797045649
1 1.000 0.240 10 92593375 start lost CAT/AA delins 0.700 0
dbSNP: rs797045650
rs797045650
1 1.000 0.240 10 92609068 stop gained A/T snv 0.700 0
dbSNP: rs797045651
rs797045651
1 1.000 0.240 10 92613033 splice acceptor variant TTTCTAGTCGTTCC/- del 0.700 0