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: rs587777741
rs587777741
2 0.925 7 36411062 missense variant C/T snv 1.7E-05 3.5E-05 0.800 1.000 1 2014 2014
dbSNP: rs1184529372
rs1184529372
1 1.000 7 36419462 missense variant G/C;T snv 8.0E-06 0.700 0