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: rs1799998
rs1799998
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.030 1.000 3 2014 2020
dbSNP: rs3097
rs3097
1 1.000 0.040 8 142911899 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs3802230
rs3802230
3 1.000 0.040 8 142911448 3 prime UTR variant C/A snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs4539
rs4539
4 0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 0.010 1.000 1 2017 2017