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: rs2297661
rs2297661
1 1 53258293 intron variant C/G snv 2.9E-02 3.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs5176
rs5176
6 1 53246137 3 prime UTR variant T/G snv 6.4E-04 0.700 1.000 1 2012 2012