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: rs597331
rs597331
3 2 21039555 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs679899
rs679899
7 0.925 0.080 2 21028042 missense variant G/A snv 0.49 0.39 0.700 1.000 1 2012 2012
dbSNP: rs57825321
rs57825321
2 2 21024193 3 prime UTR variant T/A snv 4.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs72653060
rs72653060
1 2 21034825 missense variant A/C snv 9.9E-05 5.0E-04 0.700 1.000 1 2018 2018