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: rs570613
rs570613
5 0.925 0.080 10 8064539 intron variant C/T snv 0.60 0.020 0.500 2 2007 2009
dbSNP: rs1211413464
rs1211413464
2 0.925 0.080 10 8069546 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs3802604
rs3802604
4 0.882 0.200 10 8060309 intron variant G/A snv 0.51 0.010 1.000 1 2007 2007