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: rs222020
rs222020
GC
5 0.851 0.320 4 71770555 intron variant C/T snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs2298849
rs2298849
GC
1 1.000 0.080 4 71783134 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2013 2013