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: rs12673132
rs12673132
2 0.925 7 34663912 intron variant G/A snv 4.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs6947841
rs6947841
1 1.000 7 34834133 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs6972158
rs6972158
2 0.925 0.080 7 34849570 missense variant A/G snv 0.28 0.34 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014