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: rs17476364
rs17476364
HK1
8 10 69334748 intron variant T/C snv 6.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs16926246
rs16926246
HK1
4 10 69333636 intron variant C/T snv 0.12 0.800 1.000 1 2009 2009