Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs112176450
rs112176450
0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.040 1.000 4 2011 2015