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: rs1135401818
rs1135401818
1 1.000 1 7677682 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1553238311
rs1553238311
1 1.000 1 7661861 frameshift variant G/- del 0.700 0
dbSNP: rs863224853
rs863224853
1 1.000 1 7736507 missense variant A/G snv 0.700 0