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: rs120074142
rs120074142
ACAT1
3 1.000 0.080 11 108121608 start lost T/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1476273214
rs1476273214
ACAT1
3 1.000 0.080 11 108121653 frameshift variant -/C delins 2.7E-05 0.700 1.000 1 2019 2019