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: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.030 1.000 3 2001 2011
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2011
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs10336
rs10336
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10833
rs10833
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11045819
rs11045819
4 0.851 0.120 12 21176879 missense variant C/A;T snv 0.11; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1188975135
rs1188975135
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1194919682
rs1194919682
2 0.925 0.040 2 136115158 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2006 2006
dbSNP: rs1276738522
rs1276738522
1 1.000 12 6232664 start lost A/G snv 4.9E-06 0.010 1.000 1 2001 2001
dbSNP: rs1433591886
rs1433591886
1 1.000 2 169633213 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs1799972
rs1799972
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2011 2011
dbSNP: rs749569169
rs749569169
1 1.000 7 29512676 missense variant A/G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs756151230
rs756151230
1 1.000 7 92470377 missense variant G/C snv 0.010 1.000 1 2001 2001
dbSNP: rs765502022
rs765502022
8 0.827 0.240 4 69112695 missense variant T/C snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs781172058
rs781172058
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs766914563
rs766914563
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1272938495
rs1272938495
1 1.000 2 136115225 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1292288729
rs1292288729
1 1.000 19 41009375 missense variant T/C snv 7.4E-06 0.010 1.000 1 2011 2011