Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730882177
rs730882177
ATP6V1B2
2 0.925 0.120 8 20220320 missense variant G/C snv 0.800 0
dbSNP: rs1135401772
rs1135401772
ATP6V1B2
2 1.000 8 20216454 missense variant G/C snv 0.700 0