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: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 < 0.001 1 2012 2012
dbSNP: rs772717932
rs772717932
IL1B
2 1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
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: rs3788766
rs3788766
SLC6A14
2 1.000 0.040 X 116435671 upstream gene variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.040 1.000 4 2000 2019
dbSNP: rs77932196
rs77932196
CFTR
8 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 1995 1995
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
8 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.020 1.000 2 1995 1995
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
5 0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
dbSNP: rs121908757
rs121908757
CFTR
3 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121909005
rs121909005
CFTR
5 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 1.000 2 1995 2017
dbSNP: rs75541969
rs75541969
CFTR
9 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs74767530
rs74767530
CFTR
5 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.010 1.000 1 1992 1992
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.010 < 0.001 1 1992 1992
dbSNP: rs80034486
rs80034486
CFTR
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 < 0.001 1 1992 1992
dbSNP: rs113857788
rs113857788
CFTR
5 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs778055276
rs778055276
PARP9 ; LOC105374071
1 3 122555701 missense variant T/C snv 4.4E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3804100
rs3804100
TLR2
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs11575934
rs11575934
IL12RB1
4 0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25 0.010 1.000 1 2007 2007