Source: ALL
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: rs120074140
rs120074140
ACAT1
3 1.000 0.080 11 108146334 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs145229472
rs145229472
ACAT1
3 1.000 0.080 11 108146200 splice acceptor variant A/C snv 2.8E-05 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs748303093
rs748303093
ACAT1
3 1.000 0.080 11 108146356 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs762991875
rs762991875
ACAT1
3 1.000 0.080 11 108138917 missense variant G/C snv 6.0E-05 6.3E-05 0.700 1.000 1 2019 2019