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: rs63749008
rs63749008
MECP2
1.000 0.080 X 154032541 frameshift variant -/CTGACTTT delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0