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: rs267608525
rs267608525
MECP2
1.000 0.080 X 154031044 stop gained G/A;C snv 1.1E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2001 2001