Source: CURATED ×
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: rs1566446604
rs1566446604
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1064794254
rs1064794254
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs1555144459
rs1555144459
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1064793345
rs1064793345
10 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
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: 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: 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: rs11102800
rs11102800
2 1.000 0.040 1 114498310 intron variant C/T snv 0.58 0.800 1.000 1 2014 2014
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: rs11211996
rs11211996
1 1.000 0.040 11 106987949 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1135402760
rs1135402760
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs11582563
rs11582563
1 1.000 0.040 1 114416918 intron variant G/A snv 0.14 0.800 1.000 1 2014 2014
dbSNP: rs11585926
rs11585926
3 1.000 0.040 1 114431068 intron variant T/C snv 0.22 0.800 1.000 1 2014 2014
dbSNP: rs11587400
rs11587400
1 1.000 0.040 1 114537037 non coding transcript exon variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs11589568
rs11589568
1 1.000 0.040 1 114453702 intron variant T/C snv 0.14 0.800 1.000 1 2014 2014