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: rs1574430
rs1574430
1 6 43301291 intron variant A/C;G snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs4149178
rs4149178
3 0.925 0.120 6 43304450 3 prime UTR variant A/G snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs56401710
rs56401710
1 6 43301442 intron variant C/A snv 0.45 0.700 1.000 1 2019 2019