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: rs2076756
rs2076756
2 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.820 1.000 1 2006 2017
dbSNP: rs5743289
rs5743289
2 1.000 0.040 16 50722863 intron variant C/G;T snv 0.800 1.000 1 2008 2008
dbSNP: rs2066844
rs2066844
5 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.790 1.000 1 2002 2017