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: rs384490
rs384490
CARS1
2 0.925 0.080 11 3057655 splice region variant T/G snv 0.46 0.010 1.000 1 2017 2017