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: rs41283399
rs41283399
1 17 7218220 intron variant C/A;T snv 2.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs41283401
rs41283401
1 17 7219021 5 prime UTR variant G/A snv 2.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs41283403
rs41283403
1 17 7219509 5 prime UTR variant C/T snv 3.0E-02 0.700 1.000 1 2012 2012