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: rs74315434
rs74315434
VSX1
2 0.925 0.040 20 25079464 missense variant A/G;T snv 4.0E-06; 4.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs140122268
rs140122268
VSX1
1 1.000 0.040 20 25079507 missense variant G/C snv 3.4E-03 2.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs201716527
rs201716527
VSX1
1 1.000 0.040 20 25079487 missense variant T/C snv 7.6E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs6138482
rs6138482
VSX1
1 1.000 0.040 20 25078806 missense variant C/G;T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs74315432
rs74315432
VSX1
2 0.925 0.040 20 25079443 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.030 0.667 3 2002 2011
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs771561481
rs771561481
VSX1
2 0.925 0.040 20 25078931 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs6430585
rs6430585
UBXN4
2 1.000 0.040 2 135749357 intron variant A/C snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs8111998
rs8111998 		2 1.000 0.040 19 22558873 downstream gene variant C/T snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs148957473
rs148957473
VSX1
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.030 0.667 3 2008 2013
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.020 1.000 2 2008 2013
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2008 2013
dbSNP: rs12480307
rs12480307
VSX1
1 1.000 0.040 20 25078910 synonymous variant T/C snv 0.26 0.30 0.010 1.000 1 2013 2013
dbSNP: rs56157240
rs56157240
VSX1
1 1.000 0.040 20 25078745 synonymous variant A/T snv 0.26 0.30 0.010 1.000 1 2013 2013
dbSNP: rs779148597
rs779148597
ZEB1
3 0.882 0.080 10 31521255 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs2286194
rs2286194
HGF
2 0.925 0.040 7 81726133 intron variant T/A snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs373356672
rs373356672
NEIL1 ; MIR631
2 0.925 0.080 15 75354442 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1536482
rs1536482 		3 1.000 0.040 9 134548682 upstream gene variant G/A snv 0.36 0.030 1.000 3 2013 2015
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.030 0.667 3 2012 2015
dbSNP: rs2288393
rs2288393
LOX
1 1.000 0.040 5 122077195 non coding transcript exon variant C/A;G snv 0.030 0.667 3 2012 2015
dbSNP: rs2721051
rs2721051 		3 1.000 0.040 13 40536747 intron variant C/T snv 8.6E-02 0.030 1.000 3 2013 2015
dbSNP: rs2956540
rs2956540
LOX ; SRFBP1
1 1.000 0.040 5 122073485 intron variant G/A;C snv 0.030 1.000 3 2015 2015