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: rs753345594
rs753345594
MRPS22
4 0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 1 2018 2018