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: rs1019340046
rs1019340046
4 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs1057519984
rs1057519984
3 0.882 0.080 17 7673777 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1429743956
rs1429743956
3 0.882 0.080 17 7674906 stop gained T/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs2078486
rs2078486
3 0.882 0.080 17 7679765 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs375573770
rs375573770
3 0.882 0.080 17 7670682 missense variant C/G snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs587782769
rs587782769
3 0.882 0.080 17 7676155 missense variant G/A;C;T snv 1.6E-05; 1.2E-05; 4.0E-06 0.010 1.000 1 2008 2008