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: rs111366116
rs111366116
2 5 53999716 intron variant C/T snv 8.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs7735249
rs7735249
2 5 54014309 intron variant C/G snv 9.0E-02 0.700 1.000 1 2016 2016