rs730882177, ATP6V1B2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ZIMMERMANN-LABAND SYNDROME 2
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
2 0.925 0.120 8 20220320 missense variant G/C snv 0.800 0
ZIMMERMANN-LABAND SYNDROME 1
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
7 0.925 0.120 8 20220320 missense variant G/C snv 0.700 0