Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894021
rs104894021
0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2005 2005
dbSNP: rs199472922
rs199472922
0.882 0.120 7 150951708 missense variant T/C;G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2015 2015