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: rs970548
rs970548
3 10 45517829 intron variant A/C;T snv 0.800 1.000 3 2013 2018
dbSNP: rs11239549
rs11239549
1 10 45523383 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs3802548
rs3802548
2 10 45457297 3 prime UTR variant T/A;C snv 0.700 1.000 1 2019 2019