Source: CURATED

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: rs61754421
rs61754421
MECP2
1.000 0.080 X 154032556 stop gained C/A;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 1 2013 2013