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: rs193921147
rs193921147
EZH2
1.000 0.120 7 148809340 missense variant G/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0