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: rs267608613
rs267608613
MECP2
1.000 0.080 X 154030627 frameshift variant -/G delins 5.7E-06; 1.1E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0