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: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs200246209
rs200246209
MMP7
1 11 102527789 synonymous variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs3731499
rs3731499
CDC25A
3 0.925 0.080 3 48184680 missense variant G/A snv 5.7E-05 1.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs3743073
rs3743073
CHRNA3
11 0.807 0.120 15 78617197 intron variant G/T snv 0.61 0.010 1.000 1 2010 2010
dbSNP: rs746429
rs746429
SIPA1
8 0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30 0.010 1.000 1 2010 2010
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs773895706
rs773895706
RASGRF1
3 0.925 0.080 15 79090236 missense variant G/A snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2011
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2001 2011
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs181264737
rs181264737
MTSS1
2 8 124589710 missense variant C/A;G;T snv 1.2E-05; 4.1E-06; 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs3756824
rs3756824
PRL ; CASC15
3 0.925 0.080 6 22298508 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6983561
rs6983561
PCAT1 ; CASC19
3 0.925 0.080 8 127094635 intron variant A/C snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs11902171
rs11902171
ITGAV
6 0.925 0.080 2 186678500 3 prime UTR variant G/C snv 0.22 0.020 1.000 2 2011 2012
dbSNP: rs2269772
rs2269772
ITGA3
6 0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19 0.020 1.000 2 2011 2012
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: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs10964859
rs10964859
IFNW1
1 9 21140673 3 prime UTR variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs10964862
rs10964862 		1 9 21151554 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs11788747
rs11788747
RECK
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1212415280
rs1212415280
VEGFA
2 6 43771130 missense variant G/T snv 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs121913535
rs121913535
KRAS
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012