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: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs4150351
rs4150351
2 0.925 0.160 13 102870617 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs710100
rs710100
3 1.000 0.040 14 103135941 missense variant A/G snv 0.64 0.59 0.010 1.000 1 2011 2011
dbSNP: rs8126
rs8126
8 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs1052823
rs1052823
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
3 1.000 0.040 14 103137316 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1360602468
rs1360602468
2 0.925 0.080 14 103698904 missense variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs745564626
rs745564626
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2002 2011
dbSNP: rs2498804
rs2498804
8 0.827 0.160 14 104766758 intron variant C/A;T snv 0.40 0.33 0.010 1.000 1 2015 2015
dbSNP: rs121909252
rs121909252
1 1.000 0.040 13 110719667 missense variant C/A snv 0.700 0
dbSNP: rs121909250
rs121909250
1 1.000 0.040 13 110719736 missense variant G/C snv 0.700 0
dbSNP: rs121909251
rs121909251
1 1.000 0.040 13 110719739 missense variant A/G snv 0.700 0
dbSNP: rs2238151
rs2238151
3 1.000 0.040 12 111774029 intron variant T/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2006 2006
dbSNP: rs2012775
rs2012775
2 1.000 0.040 9 115141569 intron variant T/C snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs776977530
rs776977530
2 0.925 0.160 5 115625723 synonymous variant G/A snv 4.6E-06 0.010 1.000 1 2012 2012
dbSNP: rs26537
rs26537
2 0.925 0.080 5 115841317 3 prime UTR variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2012
dbSNP: rs762403278
rs762403278
4 0.851 0.200 1 11796244 missense variant T/C;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2007 2012
dbSNP: rs17568
rs17568
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019