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: rs6113722
rs6113722
2 20 22576461 intron variant G/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs6048205
rs6048205
3 1.000 0.080 20 22578963 upstream gene variant A/G snv 9.1E-02 0.700 1.000 1 2012 2012