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: rs1236436555
rs1236436555
1 1.000 0.040 3 69936760 splice region variant G/C snv 7.0E-06 0.700 0
dbSNP: rs2234675
rs2234675
1 1.000 0.040 2 222221236 missense variant G/A;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 1998 1998