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: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs747432300
rs747432300
GPT ; LOC101928953
2 0.925 0.120 8 144504357 missense variant C/A;T snv 8.1E-06; 1.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs1140409
rs1140409
DDX5 ; MIR3064
2 0.925 0.080 17 64500552 missense variant A/C snv 5.4E-02 5.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs1227756
rs1227756
COL13A1
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs2298839
rs2298839
AFP
2 0.925 0.080 4 73445127 splice region variant A/G;T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs2710833
rs2710833
DDX60L ; LOC107986198
2 0.925 0.080 4 168488807 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs343064
rs343064 		2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs4646038
rs4646038
CASP9
2 0.925 0.080 1 15506705 intron variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs643608
rs643608 		2 0.925 0.080 21 43348682 intergenic variant C/T snv 0.69 0.700 1.000 1 2010 2010
dbSNP: rs6487679
rs6487679 		2 0.925 0.080 12 9218736 intergenic variant C/T snv 0.80 0.700 1.000 1 2010 2010
dbSNP: rs6591182
rs6591182
EHBP1L1
2 0.925 0.080 11 65582285 missense variant T/G snv 0.47 0.45 0.700 1.000 1 2010 2010
dbSNP: rs6834059
rs6834059
AFP
2 0.925 0.080 4 73435958 intron variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs767864210
rs767864210
PDLIM5
3 0.882 0.120 4 94657500 missense variant G/A;T snv 8.0E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs887304
rs887304
CRACR2A
2 0.925 0.080 12 3648382 3 prime UTR variant T/C snv 0.77 0.700 1.000 1 2010 2010
dbSNP: rs430397
rs430397
HSPA5
9 0.763 0.240 9 125238840 intron variant C/T snv 9.1E-02 0.11 0.020 1.000 2 2009 2011
dbSNP: rs1049305
rs1049305
AQP1
4 0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs1431315635
rs1431315635
HFE ; LOC108783645
3 0.882 0.120 6 26092928 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs143175221
rs143175221
HFE ; LOC108783645
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs3077
rs3077
HLA-DPA1
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.010 < 0.001 1 2011 2011
dbSNP: rs755284374
rs755284374
HFE
3 0.882 0.120 6 26093122 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs897206619
rs897206619
HFE
3 0.882 0.120 6 26093128 missense variant C/T snv 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012