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: rs61748396
rs61748396
MECP2
0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1993 2016
dbSNP: rs61748396
rs61748396
MECP2
0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 5 2001 2007
dbSNP: rs61748396
rs61748396
MECP2
0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.700 0
dbSNP: rs61748396
rs61748396
MECP2
0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.700 0