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: rs80338722
rs80338722
SLC25A13
3 0.882 0.120 7 96184276 splice donor variant C/T snv 4.8E-05 1.4E-05 0.700 1.000 4 1999 2016