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: rs757415879
rs757415879
1 1.000 0.071 3 48576272 stop gained G/A,T snp 1.2E-05 9.6E-05 0.700 11 1999 2016
dbSNP: rs886058642
rs886058642
1 1.000 0.071 3 48590817 splice acceptor variant C/T snp 0.700 3 1999 2007
dbSNP: rs1055680335
rs1055680335
4 0.846 0.071 3 48575497 missense variant G/A snp 4.1E-06 0.700 1 2015 2015
dbSNP: rs121912836
rs121912836
4 0.846 0.071 3 48575392 missense variant C/A,T snp 0.010 1.000 1 1999 1999
dbSNP: rs121912856
rs121912856
8 0.801 0.107 3 48593538 missense variant T/C snp 3.2E-05 6.4E-05 0.010 1.000 1 2005 2005