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: rs61751443
rs61751443
MECP2
0.925 0.080 X 154030911 missense variant C/A;G;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 5 1999 2017
dbSNP: rs61751443
rs61751443
MECP2
0.925 0.080 X 154030911 missense variant C/A;G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1993 2016
dbSNP: rs61751443
rs61751443
MECP2
0.925 0.080 X 154030911 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1993 2016