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: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2011 2011
dbSNP: rs2253319
rs2253319
RUNX1
3 0.882 0.120 21 34815749 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.020 1.000 2 2012 2017
dbSNP: rs10420252
rs10420252
COX6B1
2 1.000 0.080 19 35648270 upstream gene variant G/A snv 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2012 2012
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2012 2012
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11099592
rs11099592
HPSE
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2012 2012
dbSNP: rs1143630
rs1143630
IL1B
5 0.827 0.160 2 112834078 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1143643
rs1143643
IL1B
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1190271
rs1190271
POPDC3
1 1.000 0.080 6 105176946 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs14304
rs14304
CCL18
2 1.000 0.080 17 36071135 3 prime UTR variant T/C snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs1478604
rs1478604
THBS1
9 0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
12 0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39 0.010 1.000 1 2012 2012
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 2012 2012
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2071504
rs2071504
POLR2A
4 0.882 0.120 17 7502618 non coding transcript exon variant C/T snv 0.18 0.17 0.010 1.000 1 2012 2012
dbSNP: rs2071676
rs2071676
CA9 ; ARHGEF39
4 0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2236142
rs2236142
CHEK2 ; HSCB
6 0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs2302254
rs2302254
NME1 ; NME1-NME2
15 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs3218038
rs3218038
CCNE1
4 0.882 0.120 19 29814988 intron variant G/T snv 9.1E-02 0.010 1.000 1 2012 2012