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: rs1676486
rs1676486
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.020 1.000 2 2007 2013
dbSNP: rs2615977
rs2615977
3 0.925 0.080 1 102986836 intron variant A/C snv 0.27 0.010 < 0.001 1 2013 2013