Source: BEFREE ×
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: rs121965074
rs121965074
FAH
2 0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs121965078
rs121965078
FAH
1 0.925 0.120 15 80173143 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs80338899
rs80338899
FAH
1 0.925 0.120 15 80173093 stop gained G/A snv 8.0E-05 9.1E-05 0.010 1.000 1 2004 2004