Disease: ZIMMERMANN-LABAND SYNDROME 2 ×
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: rs730882177
rs730882177 		0.925 0.120 8 20220320 missense variant G/C snv
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.800 0
dbSNP: rs1135401772
rs1135401772 		1.000 8 20216454 missense variant G/C snv
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.700 0