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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2006 2014
dbSNP: rs2134655
rs2134655
2 0.925 0.080 3 114139354 intron variant C/A;T snv 0.010 1.000 1 2017 2017