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
3 1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 0.870 0.889 9 2009 2015
dbSNP: rs11248051
rs11248051
GAK
2 1.000 0.040 4 864544 intron variant C/G;T snv 0.820 1.000 3 2010 2014
dbSNP: rs35541465
rs35541465
GAK
1 1.000 0.040 4 879499 intron variant TACT/-;TACTTACT delins 0.700 1.000 1 2016 2016
dbSNP: rs748055361
rs748055361
GAK
2 0.925 0.080 4 882749 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020