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: rs17632542
rs17632542
3 0.925 0.080 19 50858501 missense variant T/C snv 5.5E-02 4.9E-02 0.750 0.667 1 2011 2015
dbSNP: rs1058205
rs1058205
2 0.925 0.080 19 50860142 3 prime UTR variant C/T snv 0.75 0.74 0.720 1.000 1 2008 2018