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: rs10208293
rs10208293
4 0.882 0.160 2 102349850 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs12188164
rs12188164
1 1.000 0.080 5 428121 intron variant C/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs12883884
rs12883884
1 1.000 0.080 14 70050466 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1483757
rs1483757
3 0.925 0.160 12 117323735 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1884302
rs1884302
4 0.851 0.120 20 7125642 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2282851
rs2282851
1 1.000 0.080 6 33312532 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs2917454
rs2917454
1 1.000 0.080 10 77132657 intron variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs37973
rs37973
7 0.807 0.280 7 7968245 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs38850
rs38850
MET
1 1.000 0.080 7 116697595 intron variant G/A snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs4504543
rs4504543
1 1.000 0.080 7 36643290 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs4532099
rs4532099
1 1.000 0.080 3 72266805 intron variant T/C snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs6907229
rs6907229
1 1.000 0.080 6 73174426 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs9658281
rs9658281
1 1.000 0.080 12 117329773 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs12793173
rs12793173
2 0.925 0.160 11 34812657 intergenic variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1057518791
rs1057518791
7 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
dbSNP: rs1060499549
rs1060499549
4 0.882 0.120 9 106927699 stop gained C/T snv 0.700 0
dbSNP: rs771148519
rs771148519
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.800 0.944 18 1997 2016
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 9 1995 2014
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 7 1995 2013
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.710 0.833 6 1999 2016
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 1.000 6 1995 2015
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.720 0.833 6 1998 2011
dbSNP: rs28931614
rs28931614
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 1.000 5 1996 2015
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.050 1.000 5 2004 2017