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: rs63094662
rs63094662
MECP2
0.925 0.080 X 154030648 stop gained C/A;T snv 8.7E-05; 4.1E-05
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		0.700 0
dbSNP: rs63094662
rs63094662
MECP2
0.925 0.080 X 154030648 stop gained C/A;T snv 8.7E-05; 4.1E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0