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: rs267608454
rs267608454
MECP2
1.000 0.080 X 154032226 missense variant A/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 2 1999 2018