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: rs3820068
rs3820068
1 1 15471702 intron variant A/G snv 0.23 0.700 1.000 2 2017 2017
dbSNP: rs1042010
rs1042010
1 1 15467418 synonymous variant G/A;C snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs72865183
rs72865183
1 1 15468885 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019