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: rs145047094
rs145047094
0.882 0.160 11 67483205 missense variant G/A snv 2.0E-03 1.9E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2018 2018
dbSNP: rs4930199
rs4930199
0.851 0.120 11 67490920 missense variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2015 2015
dbSNP: rs641081
rs641081
0.851 0.120 11 67490352 missense variant C/A snv 0.96 0.84
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2015 2015