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: rs121913457
rs121913457
1 1.000 0.080 9 130873004 missense variant T/C snv 0.710 1.000 15 2002 2014
dbSNP: rs121913449
rs121913449
1 1.000 0.080 9 130862977 missense variant A/T snv 0.700 1.000 10 2001 2014
dbSNP: rs121913456
rs121913456
1 1.000 0.080 9 130862943 missense variant A/G snv 0.710 1.000 10 2002 2014
dbSNP: rs121913450
rs121913450
1 1.000 0.080 9 130873016 missense variant A/G snv 0.700 1.000 8 2002 2014
dbSNP: rs121913453
rs121913453
1 1.000 0.080 9 130862962 missense variant G/A snv 0.700 1.000 8 2002 2014
dbSNP: rs121913455
rs121913455
1 1.000 0.080 9 130862955 missense variant C/G snv 0.700 1.000 6 2003 2014
dbSNP: rs121913458
rs121913458
1 1.000 0.080 9 130862969 missense variant G/C;T snv 0.700 1.000 6 2002 2014
dbSNP: rs1057519758
rs1057519758
1 1.000 0.080 9 130872153 missense variant T/G snv 0.700 1.000 5 2004 2014
dbSNP: rs1487152821
rs1487152821
1 1.000 0.080 6 33180274 missense variant G/A snv 7.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs1057519772
rs1057519772
1 1.000 0.080 9 130872895 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519774
rs1057519774
1 1.000 0.080 9 130872902 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519775
rs1057519775
1 1.000 0.080 9 130873028 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519776
rs1057519776
1 1.000 0.080 1 36467843 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1064156
rs1064156
1 1.000 0.080 9 130878519 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1257378
rs1257378
1 1.000 0.080 11 94621792 intron variant A/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs12573787
rs12573787
1 1.000 0.080 10 87863959 5 prime UTR variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1343187782
rs1343187782
1 1.000 0.080 3 37298923 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1414109649
rs1414109649
1 1.000 0.080 5 40765164 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs281860566
rs281860566
1 1.000 0.080 6 31270339 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs34549764
rs34549764
1 1.000 0.080 9 130862953 missense variant A/G snv 2.6E-03 2.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs369488601
rs369488601
1 1.000 0.080 22 23181175 missense variant G/A;C snv 1.9E-05; 9.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs375912312
rs375912312
1 1.000 0.080 1 22588916 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4795519
rs4795519
1 1.000 0.080 17 27214252 intergenic variant A/C snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs532354124
rs532354124
1 1.000 0.080 1 197103274 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs6931104
rs6931104
1 1.000 0.080 6 151465042 intron variant G/A snv 0.54 0.010 1.000 1 2019 2019