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: rs533617
rs533617
6 2 21011100 missense variant T/C snv 3.1E-02 2.9E-02 0.800 1.000 2 2012 2018
dbSNP: rs12720826
rs12720826
3 2 21042823 intron variant T/C snv 3.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs531819
rs531819
3 2 21040767 intron variant T/G snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs570877
rs570877
3 2 21028168 intron variant T/G snv 0.87 0.700 1.000 1 2012 2012