Disease: Yao syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2066844
rs2066844 		0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.810 1.000 3 2011 2018
dbSNP: rs2066845
rs2066845 		0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.800 1.000 2 2011 2015
dbSNP: rs2066847
rs2066847 		0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.700 0