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: rs12118370
rs12118370
3 1 112605645 intron variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs6658555
rs6658555
2 1 112555912 missense variant C/T snv 0.19 0.20 0.700 1.000 1 2016 2016