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: rs1555303073
rs1555303073
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs387906867
rs387906867
2 0.925 0.120 2 44942489 stop gained G/T snv 0.700 0
dbSNP: rs387906868
rs387906868
1 1.000 0.080 2 44942603 missense variant G/T snv 1.7E-05 2.8E-05 0.800 1.000 1 2010 2010
dbSNP: rs587777379
rs587777379
1 1.000 0.080 13 110166277 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1411887961
rs1411887961
1 1.000 0.080 10 117545628 splice region variant G/A;T snv 0.700 0
dbSNP: rs1564751655
rs1564751655
1 1.000 0.080 10 117545631 splice acceptor variant G/A snv 0.700 0