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: rs121434292
rs121434292
2 0.925 0.120 8 144416001 missense variant G/A;T snv 9.9E-06 0.010 1.000 1 2010 2010
dbSNP: rs1355400106
rs1355400106
1 1.000 0.040 1 26039863 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs534850657
rs534850657
2 0.925 0.120 8 144413980 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs782427403
rs782427403
2 0.925 0.120 8 144413980 frameshift variant A/- del 4.2E-06 7.0E-06 0.010 1.000 1 2014 2014