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: rs387906657
rs387906657
3 0.925 0.080 12 101642459 missense variant T/C snv 7.0E-06 0.800 1.000 2 2010 2016
dbSNP: rs387906658
rs387906658
3 0.925 0.080 12 101670362 missense variant T/C snv 0.700 1.000 2 2010 2016
dbSNP: rs1370563966
rs1370563966
1 1.000 12 101632138 missense variant G/A snv 7.0E-06 0.700 0