Source: CURATED ×
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: rs121434622
rs121434622
FMR1
1 1.000 0.080 X 147936534 missense variant T/A snv 0.860 1.000 5 1997 2015