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: rs267608329
rs267608329
MECP2
1.000 0.080 X 154030628 splice acceptor variant GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGG/- delins 1.3E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0