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: rs117806152
rs117806152
1 14 96214520 intron variant A/C snv 1.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs138642043
rs138642043
1 2 168964291 missense variant C/T snv 3.4E-03 4.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs2741045
rs2741045
4 2 233671494 intron variant C/T snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs4430924
rs4430924
1 2 61476721 intron variant A/C;G snv 0.010 1.000 1 2019 2019