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: rs12700667
rs12700667
2 0.925 0.080 7 25862019 intergenic variant G/A snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs17860508
rs17860508
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.010 1.000 1 2018 2018
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 < 0.001 1 2018 2018