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: rs1534284
rs1534284
2 0.925 0.040 12 53299748 missense variant A/G;T snv 0.99; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs71453838
rs71453838
2 0.925 0.040 12 53299748 missense variant AA/GC mnv 0.010 1.000 1 2010 2010