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: rs368820286
rs368820286
ALDH7A1
3 1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1996 2013