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: rs4141463
rs4141463
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.820 0.667 3 2010 2019
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.810 1.000 2 2009 2019
dbSNP: rs1877455
rs1877455
1 1.000 0.040 1 114556471 intergenic variant C/T snv 0.12 0.810 1.000 1 2014 2014
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: 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: 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
dbSNP: rs3827735
rs3827735
1 1.000 0.040 1 114510087 intron variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs4150167
rs4150167
1 1.000 0.040 16 84180078 missense variant C/T snv 1.9E-02 1.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs4675502
rs4675502
1 1.000 0.040 2 205221447 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs6537825
rs6537825
1 1.000 0.040 1 114405659 missense variant A/G snv 0.88 0.92 0.800 1.000 1 2014 2014
dbSNP: rs6661053
rs6661053
1 1.000 0.040 1 114496497 intron variant T/A;C snv 0.800 1.000 1 2014 2014
dbSNP: rs7511633
rs7511633
1 1.000 0.040 1 114456655 intron variant G/A snv 0.36 0.800 1.000 1 2014 2014
dbSNP: rs7711337
rs7711337
1 1.000 0.040 5 162656512 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs7834018
rs7834018
1 1.000 0.040 8 71649507 intergenic variant C/T snv 0.83 0.800 1.000 1 2012 2012
dbSNP: rs8453
rs8453
1 1.000 0.040 1 114716978 3 prime UTR variant G/T snv 0.11 0.800 1.000 1 2014 2014
dbSNP: rs926938
rs926938
1 1.000 0.040 1 114697195 upstream gene variant A/G;T snv 0.800 1.000 1 2014 2014
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: rs113994098
rs113994098
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 3 2002 2011
dbSNP: rs1555144459
rs1555144459
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012