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: rs74315323
rs74315323
HJV
4 0.882 0.080 1 146018399 missense variant C/A snv 1.7E-04 2.7E-04 0.720 1.000 2 2004 2005
dbSNP: rs121434374
rs121434374
HJV
4 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs143496559
rs143496559
HJV
2 0.925 0.080 1 146018454 missense variant C/T snv 2.9E-04 5.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs781959255
rs781959255
HJV
2 0.925 0.080 1 146019321 missense variant C/T snv 8.1E-06 0.010 1.000 1 2011 2011