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: rs387906897
rs387906897
JPH2
1 1.000 20 44160366 missense variant A/G snv 8.7E-06 7.0E-06 0.800 1.000 4 2007 2018
dbSNP: rs387906898
rs387906898
JPH2
2 0.925 0.040 20 44160293 missense variant G/A snv 0.800 1.000 4 2007 2018
dbSNP: rs557878787
rs557878787
JPH2
1 1.000 20 44118580 missense variant C/A;T snv 4.0E-06; 6.8E-05 0.700 1.000 4 2007 2018
dbSNP: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.700 1.000 4 2007 2018