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: rs201059543
rs201059543
2 12 121184366 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs57105105
rs57105105
4 0.925 0.080 8 24953776 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018