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: rs2217262
rs2217262
1 1.000 0.040 7 112156322 intron variant A/C snv 7.2E-02 0.020 1.000 2 2010 2014
dbSNP: rs761374228
rs761374228
1 1.000 0.040 2 88579603 missense variant G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs849563
rs849563
1 1.000 0.040 2 205745778 synonymous variant T/A;G snv 4.0E-06; 0.19 0.020 1.000 2 2007 2017
dbSNP: rs10038113
rs10038113
1 1.000 0.040 5 25902233 intergenic variant T/C snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs10058083
rs10058083
1 1.000 0.040 5 25894289 intergenic variant G/A snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs10185592
rs10185592
1 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs10205350
rs10205350
1 1.000 0.040 2 30923631 intron variant G/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10239799
rs10239799
1 1.000 0.040 7 120765281 intergenic variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs10489525
rs10489525
1 1.000 0.040 1 114721064 intron variant G/A snv 0.32 0.800 1.000 1 2014 2014
dbSNP: rs10500171
rs10500171
1 1.000 0.040 7 147183313 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs10513025
rs10513025
1 1.000 0.040 5 9623510 non coding transcript exon variant T/C snv 5.4E-02 0.800 1.000 1 2009 2009
dbSNP: rs1053972
rs1053972
1 1.000 0.040 19 50855373 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1064794245
rs1064794245
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs10732392
rs10732392
1 1.000 0.040 9 126633758 intron variant A/G snv 0.84 0.010 1.000 1 2011 2011
dbSNP: rs10749886
rs10749886
1 1.000 0.040 11 107129809 intergenic variant G/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs10858047
rs10858047
1 1.000 0.040 1 114531255 upstream gene variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs10904487
rs10904487
1 1.000 0.040 10 5382502 intergenic variant C/T snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs10942147
rs10942147
1 1.000 0.040 5 25910820 non coding transcript exon variant G/A snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs11080149
rs11080149
NF1 ; OMG
1 1.000 0.040 17 31296270 missense variant C/T snv 9.1E-02 8.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs11102807
rs11102807
1 1.000 0.040 1 114518963 intergenic variant A/G snv 0.44 0.800 1.000 1 2014 2014
dbSNP: rs11118968
rs11118968
1 1.000 0.040 1 206524916 intron variant G/A snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs111902263
rs111902263
1 1.000 0.040 17 30971417 missense variant G/A snv 1.2E-02 1.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1119032
rs1119032
1 1.000 0.040 5 140902846 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11211996
rs11211996
1 1.000 0.040 11 106987949 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs11582563
rs11582563
1 1.000 0.040 1 114416918 intron variant G/A snv 0.14 0.800 1.000 1 2014 2014