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: 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
dbSNP: rs551236750
rs551236750
CDKN1B ; GPR19
1 1.000 0.040 12 12717760 5 prime UTR variant C/T snv 2.1E-04 0.700 0
dbSNP: rs6256
rs6256
PTH
5 0.827 0.160 11 13492506 stop gained G/A;T snv 4.0E-06; 0.16 0.700 0
dbSNP: rs1555165488
rs1555165488
MEN1
2 0.925 0.120 11 64807566 frameshift variant -/AGCTCCA delins 0.700 1.000 1 2018 2018
dbSNP: rs774454456
rs774454456
CDKN1B ; GPR19
2 0.925 0.120 12 12717808 5 prime UTR variant AGAG/- delins 3.8E-04 3.8E-04 0.700 0
dbSNP: rs869312167
rs869312167
MEN1
1 1.000 0.040 11 64809958 frameshift variant T/- delins 0.700 0
dbSNP: rs1555166368
rs1555166368
MEN1
6 0.851 0.120 11 64809738 frameshift variant GA/- del 0.700 0
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