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: rs781496140
rs781496140
ACAT1
2 1.000 0.080 11 108146228 frameshift variant GA/- delins 8.0E-06 7.0E-06 0.700 1.000 1 2019 2019