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: rs4693089
rs4693089
2 4 83452469 intron variant A/G snv 0.60 0.800 1.000 2 2012 2015
dbSNP: rs7665103
rs7665103
1 4 83443598 synonymous variant A/G snv 0.46 0.44 0.700 1.000 1 2018 2018