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: rs121964879
rs121964879
ATP6V1B1 ; VAX2
1 1.000 2 70936045 stop gained C/T snv 0.700 0
dbSNP: rs121964880
rs121964880
ATP6V1B1 ; VAX2
4 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs121964881
rs121964881
ATP6V1B1 ; VAX2
2 1.000 2 70958103 missense variant G/A snv 2.0E-05 9.1E-05 0.700 0