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: rs11871753
rs11871753
0.851 0.120 17 61779284 intron variant A/G snv 0.75
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2018 2018
dbSNP: rs16945628
rs16945628
0.851 0.120 17 61789868 intron variant T/C snv 0.60
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2018 2018