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: rs7929679
rs7929679
LOC102723568
2 0.925 0.120 11 34784302 regulatory region variant A/G snv 0.54 0.700 1.000 1 2015 2015
dbSNP: rs1554397497
rs1554397497
CFTR
1 1.000 0.120 7 117664758 frameshift variant -/CCTA delins 0.700 1.000 1 2014 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2014 2014
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs7512462
rs7512462
SLC26A9
4 0.882 0.200 1 205930467 intron variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs758675549
rs758675549
CFTR
2 0.925 0.200 7 117530938 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
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: rs886043448
rs886043448
DNAH5
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs141033578
rs141033578
CFTR
2 0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2013 2017
dbSNP: rs397508393
rs397508393
CFTR
1 1.000 0.120 7 117594976 stop gained G/A snv 7.0E-06 0.700 1.000 2 2013 2013
dbSNP: rs762844777
rs762844777
CFTR
1 1.000 0.120 7 117603696 frameshift variant T/- del 4.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs121908745
rs121908745
CFTR ; CFTR-AS1
2 0.925 0.160 7 117559587 inframe deletion ATC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs121908765
rs121908765
CFTR
1 1.000 0.120 7 117627665 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs121908771
rs121908771
CFTR
2 0.925 0.160 7 117534316 frameshift variant T/-;TT delins 0.700 1.000 1 2013 2013
dbSNP: rs121908784
rs121908784
CFTR
2 0.925 0.160 7 117642464 frameshift variant A/- del 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs121908791
rs121908791
CFTR
1 1.000 0.120 7 117509143 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs121908799
rs121908799
CFTR
4 0.851 0.160 7 117592218 frameshift variant AA/G delins 0.700 1.000 1 2013 2013
dbSNP: rs121909026
rs121909026
CFTR
1 1.000 0.120 7 117652905 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1554389346
rs1554389346
CFTR
1 1.000 0.120 7 117592209 frameshift variant A/- delins 0.700 1.000 1 2013 2013
dbSNP: rs17140229
rs17140229
CFTR
1 1.000 0.120 7 117590229 intron variant T/C snv 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1801178
rs1801178
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559590 missense variant A/G;T snv 6.4E-05; 7.1E-03 5.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs2228607
rs2228607
STX1A
2 0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53 0.010 1.000 1 2013 2013
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2013 2013
dbSNP: rs373533
rs373533
ADGRE1 ; LOC105372256
2 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 0.010 1.000 1 2013 2013
dbSNP: rs397508158
rs397508158
CFTR
2 0.925 0.160 7 117540347 splice donor variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2013 2013