Gene: ATP6V1B1 ×
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: rs121964880
rs121964880
ATP6V1B1 ; VAX2
4 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs114234874
rs114234874
ATP6V1B1 ; VAX2
3 0.882 0.200 2 70959974 missense variant G/A snv 3.0E-02 2.6E-02 0.010 1.000 1 2016 2016