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: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 11 1999 2012