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: rs730882177
rs730882177
ATP6V1B2
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: rs794729667
rs794729667
ATP6V1B2
1.000 0.200 8 20220382 stop gained C/T snv
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.710 1.000 0 2019 2019
dbSNP: rs1135401772
rs1135401772
ATP6V1B2
1.000 8 20216454 missense variant G/C snv
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.700 0
dbSNP: rs1135401772
rs1135401772
ATP6V1B2
1.000 8 20216454 missense variant G/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs730882177
rs730882177
ATP6V1B2
0.925 0.120 8 20220320 missense variant G/C snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.700 0