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: rs114115252
rs114115252
2 1.000 0.040 6 30931418 3 prime UTR variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs114838832
rs114838832
2 1.000 0.040 6 30937536 intron variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs3132581
rs3132581
5 0.851 0.040 6 30945681 intron variant G/A snv 9.3E-02 0.700 1.000 1 2013 2013