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: rs9992101
rs9992101
2 4 76439278 intron variant G/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs17319721
rs17319721
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.700 1.000 2 2010 2016
dbSNP: rs13146355
rs13146355
6 1.000 0.040 4 76490987 intron variant G/A snv 0.33 0.700 1.000 2 2017 2019