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: rs17319721
rs17319721
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.800 1.000 2 2013 2016
dbSNP: rs10032549
rs10032549
1 4 76476862 intron variant A/G snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs4859682
rs4859682
2 4 76489165 intron variant C/A snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs13146355
rs13146355
6 1.000 0.040 4 76490987 intron variant G/A snv 0.33 0.700 1.000 3 2017 2019
dbSNP: rs10008637
rs10008637
2 4 76492991 intron variant T/A;C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs111449836
rs111449836
1 4 76480299 intron variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs148172770
rs148172770
1 4 76730805 missense variant C/T snv 1.3E-04 3.4E-04 0.700 1.000 1 2018 2018
dbSNP: rs28817415
rs28817415
3 1.000 0.080 4 76480299 intron variant C/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs5020545
rs5020545
1 4 76493835 intron variant C/T snv 0.36 0.700 1.000 1 2016 2016