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: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 0
dbSNP: rs1557458134
rs1557458134
1 1.000 1 1517251 frameshift variant C/- del 0.700 0
dbSNP: rs200344678
rs200344678
1 1.000 1 1534004 missense variant C/T snv 2.8E-04 2.9E-04 0.700 0