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: rs10055255
rs10055255
2 1.000 0.040 5 76968168 intron variant A/T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1008805
rs1008805
7 0.851 0.160 15 51257402 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs10473984
rs10473984
1 5 76971301 intron variant G/T snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1080963
rs1080963
1 22 15376497 intergenic variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs10914456
rs10914456
2 1.000 0.040 1 31622570 intron variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10997870
rs10997870
2 1.000 0.040 10 67908257 intron variant G/T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs11046205
rs11046205
2 12 21839392 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11265263
rs11265263
2 1 159740727 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs115482041
rs115482041
4 0.925 0.080 9 4860267 missense variant C/T snv 2.6E-03 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1202184
rs1202184
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1207568
rs1207568
KL
3 0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs12137927
rs12137927
1 1 7811169 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1220000453
rs1220000453
5 0.882 0.120 11 58624189 synonymous variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs12720208
rs12720208
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs1290141855
rs1290141855
3 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs138191010
rs138191010
1 7 145416641 intergenic variant G/T snv 0.010 < 0.001 1 2017 2017