Source: ALL
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: rs151341424
rs151341424
STRA6
3 0.925 0.120 15 74190856 missense variant CC/TT mnv 0.810 1.000 4 2007 2011
dbSNP: rs144691445
rs144691445
STRA6
1 1.000 0.120 15 74180171 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs869025269
rs869025269
STRA6
1 1.000 0.120 15 74182448 missense variant T/C snv 8.3E-06 0.700 1.000 1 2016 2016
dbSNP: rs118203958
rs118203958
STRA6
1 1.000 0.120 15 74190889 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs118203959
rs118203959
STRA6
1 1.000 0.120 15 74180121 missense variant G/A snv 1.6E-05 0.700 0
dbSNP: rs118203960
rs118203960
STRA6
1 1.000 0.120 15 74180153 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs118203961
rs118203961
STRA6
1 1.000 0.120 15 74196145 missense variant G/A snv 0.700 0
dbSNP: rs118203962
rs118203962
STRA6
1 1.000 0.120 15 74189244 missense variant T/G snv 5.4E-04 4.1E-04 0.700 0
dbSNP: rs1555457882
rs1555457882
STRA6
1 1.000 0.120 15 74202151 splice region variant TT/- del 0.700 0
dbSNP: rs1555457919
rs1555457919
STRA6
1 1.000 0.120 15 74202231 frameshift variant -/G;GG delins 0.700 0
dbSNP: rs1567177198
rs1567177198
STRA6
1 1.000 0.120 15 74181302 frameshift variant -/A delins 0.700 0
dbSNP: rs1569119395
rs1569119395
WNT7B
2 0.925 0.120 22 45949926 stop gained G/A snv 0.700 0
dbSNP: rs267607096
rs267607096
STRA6
1 1.000 0.120 15 74202199 stop gained C/T snv 5.6E-06 0.700 0
dbSNP: rs397514638
rs397514638
STRA6
1 1.000 0.120 15 74181301 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs397514639
rs397514639
STRA6
1 1.000 0.120 15 74180120 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs397518484
rs397518484
STRA6
1 1.000 0.120 15 74181459 splice acceptor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs606231125
rs606231125
STRA6
1 1.000 0.120 15 74197785 frameshift variant G/- delins 0.700 0
dbSNP: rs606231126
rs606231126
STRA6
1 1.000 0.120 15 74202216 frameshift variant AGT/GG delins 1.6E-05 0.700 0
dbSNP: rs606231127
rs606231127
STRA6
1 1.000 0.120 15 74195371 frameshift variant -/C delins 4.0E-06; 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 10 2010 2018
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.070 1.000 7 2013 2018
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.050 1.000 5 2012 2018
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.020 1.000 2 2012 2013
dbSNP: rs766333007
rs766333007
MUC1
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.010 1.000 1 2018 2018