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: rs794726863
rs794726863
NDUFA1 ; RNF113A
3 0.882 0.160 X 119870713 stop gained G/A snv 0.010 1.000 1 2020 2020