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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2007 2015
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2006 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2019 2019
dbSNP: rs149518139
rs149518139
3 0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2188524
rs2188524
3 0.882 0.080 7 87601119 intron variant T/C snv 3.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs2235013
rs2235013
3 0.882 0.080 7 87549310 intron variant C/T snv 0.46 0.48 0.010 1.000 1 2014 2014
dbSNP: rs3842
rs3842
5 0.882 0.080 7 87504050 3 prime UTR variant T/C snv 0.16 0.010 1.000 1 2009 2009