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: rs200089613
rs200089613
HARS2
2 0.925 0.280 5 140698056 missense variant G/A;T snv 8.0E-05; 3.7E-04 0.010 1.000 1 2020 2020