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: rs170444
rs170444
2 21 42230346 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs8126601
rs8126601
1 21 42274870 intron variant G/A snv 5.2E-02 0.700 1.000 1 2012 2012