FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Fragile X Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569545382
rs1569545382 		1.000 0.080 X 147921961 stop gained C/A snv
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0