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: rs3812036
rs3812036
5 0.925 0.120 5 177386403 intron variant C/T snv 0.23 0.20 0.700 1.000 3 2017 2018
dbSNP: rs6420094
rs6420094
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.700 1.000 2 2010 2016
dbSNP: rs5030873
rs5030873
1 5 177388123 synonymous variant T/C snv 0.29 0.25 0.700 1.000 1 2019 2019