Gene: JPH2 ×
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: rs1326977511
rs1326977511
JPH2
1 1.000 0.040 20 44116369 missense variant G/A;C snv 3.6E-05; 7.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs140740776
rs140740776
JPH2
1 1.000 0.040 20 44116162 missense variant C/G;T snv 3.9E-05; 9.1E-03 0.010 1.000 1 2007 2007
dbSNP: rs387906898
rs387906898
JPH2
2 0.925 0.040 20 44160293 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.010 1.000 1 2018 2018