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: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 1.000 6 2000 2010
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0