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: rs762864856
rs762864856
3 0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs202247813
rs202247813
2 1.000 0.160 5 151855144 missense variant C/G snv 0.010 1.000 1 2012 2012