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: rs1555165488
rs1555165488
MEN1
2 0.925 0.120 11 64807566 frameshift variant -/AGCTCCA delins 0.700 1.000 1 2018 2018
dbSNP: rs202199891
rs202199891
APC
3 0.925 0.080 5 112827969 missense variant T/C snv 3.2E-05 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 1.000 1 2011 2011
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.010 1.000 1 2008 2008
dbSNP: rs397508687
rs397508687
CFTR
5 0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs61734277
rs61734277
GCM2
5 0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs61734659
rs61734659
PRSS2
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs748405415
rs748405415
PRSS2
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs76371115
rs76371115
CFTR
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs775437927
rs775437927
CRISPLD2
3 0.882 0.080 16 84849390 missense variant G/A snv 6.0E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs777418530
rs777418530
CRISPLD2
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.010 1.000 1 2006 2006