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: rs7495833
rs7495833
2 15 53651121 intron variant C/A snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs784257
rs784257
4 1.000 0.080 18 55729968 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs929250
rs929250
1 7 27205482 non coding transcript exon variant G/T snv 0.93 0.700 1.000 1 2018 2018