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: rs1564282
rs1564282
GAK
1 1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 0.870 0.889 2 2009 2015
dbSNP: rs11248051
rs11248051
GAK
1 1.000 0.040 4 864544 intron variant C/G;T snv 0.820 1.000 1 2010 2014