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: rs28997576
rs28997576
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.020 1.000 2 2006 2012
dbSNP: rs113211432
rs113211432
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.010 1.000 1 2006 2006
dbSNP: rs2070094
rs2070094
3 0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37 0.010 1.000 1 2006 2006
dbSNP: rs386654966
rs386654966
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.010 1.000 1 2006 2006