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: rs121918126
rs121918126
5 0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs886040968
rs886040968
3 1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 0.700 0