Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569545562
rs1569545562
FMR1
1.000 0.080 X 147928761 frameshift variant A/- del
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.700 0