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: rs1360131632
rs1360131632
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs2293157
rs2293157
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2012 2012