Source: CLINVAR

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: rs267608614
rs267608614
MECP2
1.000 0.080 X 154030625 frameshift variant -/C delins 1.1E-05; 5.7E-06; 5.7E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0