rs368820286, ALDH7A1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1996 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1996 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1996 2013