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: rs1234442507
rs1234442507
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.020 1.000 2 2005 2007
dbSNP: rs463312
rs463312
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.020 1.000 2 2005 2007