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: rs10903323
rs10903323
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs11265618
rs11265618
2 1.000 0.080 1 154457616 intron variant C/T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs11466657
rs11466657
3 0.925 0.120 4 38774173 missense variant A/G snv 2.7E-02; 4.0E-06 2.4E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs11541076
rs11541076
2 1.000 0.080 12 66254548 3 prime UTR variant A/T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs121912876
rs121912876
3 0.925 0.280 12 47994041 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs137853147
rs137853147
2 1.000 0.160 5 179130005 stop gained C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4329505
rs4329505
3 0.925 0.120 1 154459944 intron variant T/C snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs461266
rs461266
2 1.000 0.080 13 93033713 intron variant T/C snv 0.010 1.000 1 2018 2018