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: rs702485
rs702485
1 7 6409641 3 prime UTR variant A/G snv 0.58 0.800 1.000 3 2013 2018
dbSNP: rs79949326
rs79949326
1 7 6421679 intron variant C/G;T snv 2.9E-05; 0.21 0.700 1.000 2 2018 2018
dbSNP: rs836546
rs836546
2 7 6440037 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019