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: rs781838938
rs781838938
ATP6V1B1 ; VAX2
1 1.000 0.280 2 70963289 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.800 1.000 3 1999 2003
dbSNP: rs121964880
rs121964880
ATP6V1B1 ; VAX2
4 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 3 1999 2003
dbSNP: rs782500780
rs782500780
ATP6V1B1 ; VAX2
1 1.000 0.280 2 70959962 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 3 1999 2003
dbSNP: rs145536062
rs145536062
ATP6V1B1 ; VAX2
1 1.000 0.280 2 70963195 stop gained C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs1553419751
rs1553419751
ATP6V1B1 ; VAX2
1 1.000 0.280 2 70959977 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1553420702
rs1553420702
ATP6V1B1 ; VAX2
1 1.000 0.280 2 70964543 splice donor variant G/C snv 0.700 1.000 1 2008 2008
dbSNP: rs1161604514
rs1161604514
ATP6V1B1 ; VAX2
1 1.000 0.280 2 70962814 missense variant A/C;G snv 1.4E-05 0.700 0
dbSNP: rs727505222
rs727505222
ATP6V1B1 ; VAX2
1 1.000 0.280 2 70959020 missense variant C/A;T snv 3.6E-05; 4.4E-05 0.700 0
dbSNP: rs782138777
rs782138777
ATP6V1B1 ; VAX2
2 1.000 0.280 2 70958399 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0