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: rs1569291627
rs1569291627
1 1.000 0.080 X 53234811 frameshift variant G/- delins 0.700 1.000 5 2010 2017
dbSNP: rs1556861311
rs1556861311
1 1.000 0.080 X 53243331 splice donor variant C/T snv 0.700 1.000 3 2010 2016
dbSNP: rs267607186
rs267607186
1 1.000 0.080 X 53247131 missense variant G/A snv 0.700 1.000 2 2010 2015
dbSNP: rs267607187
rs267607187
1 1.000 0.080 X 53248778 missense variant T/G snv 0.800 1.000 2 2010 2015
dbSNP: rs267607188
rs267607188
1 1.000 0.080 X 53254856 missense variant G/A snv 0.800 1.000 2 2010 2015
dbSNP: rs267607189
rs267607189
1 1.000 0.080 X 53250303 missense variant C/T snv 0.800 1.000 2 2010 2015
dbSNP: rs875989799
rs875989799
1 1.000 0.080 X 53248814 missense variant G/A snv 0.800 1.000 2 2010 2015
dbSNP: rs587777261
rs587777261
1 1.000 0.080 X 53248133 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs797045140
rs797045140
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886041481
rs886041481
1 1.000 0.080 X 53255995 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1057520858
rs1057520858
1 1.000 0.080 X 53243445 stop gained G/A snv 0.700 0
dbSNP: rs1060499660
rs1060499660
1 1.000 0.080 X 53248219 missense variant A/G snv 0.700 0
dbSNP: rs1064795512
rs1064795512
1 1.000 0.080 X 53234646 frameshift variant -/C delins 0.700 0
dbSNP: rs1556858912
rs1556858912
1 1.000 0.080 X 53234247 frameshift variant -/GGCCT delins 0.700 0
dbSNP: rs1556859744
rs1556859744
1 1.000 0.080 X 53236495 missense variant G/A;C snv 0.700 0
dbSNP: rs1556863340
rs1556863340
1 1.000 0.080 X 53250900 frameshift variant G/- delins 0.700 0
dbSNP: rs1556863398
rs1556863398
1 1.000 0.080 X 53250926 frameshift variant -/G delins 0.700 0
dbSNP: rs1556863435
rs1556863435
1 1.000 0.080 X 53250946 frameshift variant GCCGG/- delins 0.700 0
dbSNP: rs1556863492
rs1556863492
1 1.000 0.080 X 53251018 frameshift variant TAGAGGGG/- delins 0.700 0
dbSNP: rs1556865060
rs1556865060
1 1.000 0.080 X 53255936 frameshift variant A/- del 0.700 0
dbSNP: rs1556880284
rs1556880284
1 1.000 0.080 X 53320973 frameshift variant GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC/AT delins 0.700 0
dbSNP: rs1569290954
rs1569290954
1 1.000 0.080 X 53234267 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1569291699
rs1569291699
1 1.000 0.080 X 53234869 stop gained G/A snv 0.700 0
dbSNP: rs1569300277
rs1569300277
1 1.000 0.080 X 53248112 splice donor variant A/G snv 0.700 0
dbSNP: rs1569302816
rs1569302816
1 1.000 0.080 X 53250997 stop gained G/A snv 0.700 0