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: rs1555166368
rs1555166368
MEN1
6 0.851 0.120 11 64809738 frameshift variant GA/- del 0.700 0
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: 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: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.080 0.875 8 2001 2016
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.060 0.667 6 2001 2018
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.040 0.750 4 2001 2016
dbSNP: rs756322971
rs756322971
CASR
9 0.763 0.240 3 122284955 missense variant C/A;G snv 0.040 0.750 4 2001 2016
dbSNP: rs1489694587
rs1489694587
DMD
3 0.882 0.120 X 31172385 missense variant A/C snv 0.010 < 0.001 1 2003 2003
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.020 1.000 2 2005 2005
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: 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: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1485866385
rs1485866385
APC
1 1.000 0.040 5 112767287 missense variant T/G snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2008 2011
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs111033566
rs111033566
PRSS1
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1451011538
rs1451011538
CRISPLD2
2 0.925 0.080 16 84838647 missense variant T/A snv 4.0E-06 0.010 1.000 1 2008 2008
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: 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: 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