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: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2008 2008
dbSNP: rs754426793
rs754426793
EGFR ; EGFR-AS1
2 0.925 0.080 7 55181395 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs10033029
rs10033029
PTPN13
1 1.000 0.040 4 86764643 missense variant T/C;G snv 9.4E-06; 8.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs1276184054
rs1276184054
EGFR
4 0.851 0.080 7 55201305 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2230600
rs2230600
PTPN13
5 0.827 0.160 4 86769845 missense variant A/G snv 0.18 0.14 0.010 1.000 1 2009 2009
dbSNP: rs776375114
rs776375114
EGFR
4 0.851 0.080 7 55202577 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2009 2009
dbSNP: rs11573014
rs11573014
IGFBP7 ; IGFBP7-AS1
1 1.000 0.040 4 57111075 non coding transcript exon variant C/G snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1257821596
rs1257821596
AVP
1 1.000 0.040 20 3083027 frameshift variant -/C delins 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1573496
rs1573496
ADH7
7 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2012775
rs2012775
DELEC1
2 1.000 0.040 9 115141569 intron variant T/C snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2010 2010
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs4075349
rs4075349
IGFBP7 ; IGFBP7-AS1
1 1.000 0.040 4 57110791 non coding transcript exon variant C/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2002 2011
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs1052823
rs1052823
TNFAIP2
3 1.000 0.040 14 103137233 3 prime UTR variant G/A;C;T snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1052912
rs1052912
TNFAIP2
3 1.000 0.040 14 103137316 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10900598
rs10900598
MDM4
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2011 2011