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: rs1015443
rs1015443
2 0.925 0.160 12 10908523 missense variant T/A;C snv 4.0E-06; 0.59 0.010 1.000 1 2014 2014
dbSNP: rs10204137
rs10204137
2 0.925 0.160 2 102351752 missense variant A/G;T snv 0.34 0.010 1.000 1 2009 2009
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: rs10246939
rs10246939
6 0.851 0.240 7 141972804 missense variant T/C snv 0.49 0.47 0.010 1.000 1 2014 2014
dbSNP: rs104893895
rs104893895
3 0.882 0.160 5 174729222 missense variant C/A;T snv 0.010 1.000 1 1996 1996
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: rs121908671
rs121908671
4 0.851 0.120 11 68357801 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918488
rs121918488
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121918501
rs121918501
6 0.807 0.080 10 121520050 missense variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs12226919
rs12226919
1 1.000 0.080 12 10997434 missense variant G/T snv 0.42 0.30 0.010 1.000 1 2014 2014
dbSNP: rs12226920
rs12226920
1 1.000 0.080 12 10997447 missense variant G/T snv 0.42 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1224606327
rs1224606327
1 1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
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: rs12883884
rs12883884
1 1.000 0.080 14 70050466 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1318358361
rs1318358361
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1997 1997
dbSNP: rs13431828
rs13431828
3 0.925 0.160 2 102338193 5 prime UTR variant C/T snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1350033384
rs1350033384
1 1.000 0.080 22 40409697 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs140598
rs140598
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
dbSNP: rs142511858
rs142511858
1 1.000 0.080 11 16341047 missense variant C/T snv 1.3E-03 6.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs1458741036
rs1458741036
2 0.925 0.080 10 121515287 missense variant G/A snv 3.5E-05 0.010 1.000 1 1997 1997
dbSNP: rs1483757
rs1483757
3 0.925 0.160 12 117323735 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1621
rs1621
MET
2 0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
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: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs213950
rs213950
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000