rs121434622, FMR1

N. diseases: 2
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.
Fragile X Syndrome
CUI: C0016667
Disease: Fragile X Syndrome
11 1.000 0.080 X 147936534 missense variant T/A snv 0.860 1.000 11 1997 2015
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 1.000 0.080 X 147936534 missense variant T/A snv 0.010 1.000 1 2009 2009