Source: BEFREE

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: rs121434622
rs121434622
FMR1
1.000 0.080 X 147936534 missense variant T/A snv
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.860 1.000 6 1997 2015
dbSNP: rs182830086
rs182830086
FMR1
1.000 0.080 X 147944892 missense variant G/T snv 5.5E-06
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 1.000 1 2012 2012