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: rs1371429276
rs1371429276
1 1.000 0.080 20 42472359 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs63749803
rs63749803
1 1.000 0.080 3 37004421 missense variant T/C;G snv 0.700 0
dbSNP: rs63750297
rs63750297
1 1.000 0.080 3 37004412 missense variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs63750623
rs63750623
4 0.925 0.160 2 47480707 stop gained C/G;T snv 0.700 0
dbSNP: rs63750709
rs63750709
2 0.925 0.160 2 47480846 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs63750795
rs63750795
1 1.000 0.080 2 47480854 missense variant T/G snv 0.700 0
dbSNP: rs63750966
rs63750966
1 1.000 0.080 2 47403240 missense variant G/A;C;T snv 0.700 0
dbSNP: rs63751047
rs63751047
1 1.000 0.080 3 37048525 missense variant C/A;G snv 0.700 0
dbSNP: rs63751400
rs63751400
1 1.000 0.080 2 47480839 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs768678989
rs768678989
MET
1 1.000 0.080 7 116771932 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs771333219
rs771333219
MET
1 1.000 0.080 7 116759444 missense variant C/T snv 1.2E-04 8.4E-05 0.700 0
dbSNP: rs780759537
rs780759537
1 1.000 0.080 16 68822082 missense variant G/A snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs35187787
rs35187787
6 0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs587778883
rs587778883
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2004 2004
dbSNP: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2005 2005
dbSNP: rs1165109290
rs1165109290
2 0.925 0.080 6 159692850 synonymous variant G/A snv 4.2E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2005 2005
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2006 2006
dbSNP: rs768231616
rs768231616
3 0.882 0.120 15 74750069 frameshift variant CT/- delins 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2006 2007
dbSNP: rs1235001018
rs1235001018
2 0.925 0.080 3 121729917 missense variant T/C snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1864169
rs1864169
5 0.851 0.200 14 81203689 intron variant G/T snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 < 0.001 1 2008 2008