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: rs386833829
rs386833829
SLC7A7
1 1.000 0.080 14 22775833 missense variant C/A snv 0.800 1.000 8 1998 2008