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: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs747607158
rs747607158
CFI
1 1.000 0.120 4 109740999 missense variant T/C snv 0.010 < 0.001 1 1991 1991
dbSNP: rs7817
rs7817
IFRD1
2 0.925 0.200 7 112475603 3 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1143639
rs1143639
IL1B
2 1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
dbSNP: rs7879546
rs7879546 		1 1.000 0.120 X 116217020 intergenic variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs5952223
rs5952223 		1 1.000 0.120 X 116255308 intergenic variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs397508136
rs397508136
CFTR
1 1.000 0.120 7 117480082 start lost CGAGAGACCATGCAGAGGTCGCC/- delins 0.700 1.000 1 2007 2007
dbSNP: rs397508328
rs397508328
CFTR
1 1.000 0.120 7 117480095 start lost A/G snv 2.0E-05 0.700 1.000 8 1993 2014
dbSNP: rs397508476
rs397508476
CFTR
1 1.000 0.120 7 117480096 start lost T/A;C;G snv 8.0E-06 0.700 1.000 3 2005 2012
dbSNP: rs397508657
rs397508657
CFTR
1 1.000 0.120 7 117480097 start lost G/A;T snv 0.700 0
dbSNP: rs1562876396
rs1562876396
CFTR
1 1.000 0.120 7 117480098 frameshift variant C/- del 0.700 0
dbSNP: rs397508740
rs397508740
CFTR
1 1.000 0.120 7 117480098 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs397508173
rs397508173
CFTR
1 1.000 0.120 7 117480105 stop gained C/A;T snv 5.2E-05 0.700 1.000 2 1993 1997
dbSNP: rs193922501
rs193922501
CFTR
2 0.925 0.160 7 117480108 missense variant C/T snv 2.4E-05 2.8E-05 0.700 1.000 11 1997 2012
dbSNP: rs121909045
rs121909045
CFTR
1 1.000 0.120 7 117480113 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs397508635
rs397508635
CFTR
2 0.925 0.160 7 117480132 missense variant C/A;T snv 0.810 1.000 34 1990 2015
dbSNP: rs1562876459
rs1562876459
CFTR
1 1.000 0.120 7 117480138 missense variant T/C snv 0.700 0
dbSNP: rs397508714
rs397508714
CFTR
1 1.000 0.120 7 117480138 frameshift variant T/-;TT;TTT delins 0.700 0
dbSNP: rs1317756653
rs1317756653
CFTR
1 1.000 0.120 7 117480145 frameshift variant C/- del 0.700 0
dbSNP: rs397508746
rs397508746
CFTR
1 1.000 0.120 7 117480148 splice donor variant G/T snv 4.0E-06 0.700 1.000 5 2005 2013
dbSNP: rs1562882675
rs1562882675
CFTR
1 1.000 0.120 7 117504251 splice region variant CTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAG/- delins 0.700 0
dbSNP: rs1057516232
rs1057516232
CFTR
1 1.000 0.120 7 117504255 stop gained G/A snv 0.700 1.000 1 2015 2015