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: rs3779250
rs3779250
2 0.925 0.080 7 30654644 intron variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs4722999
rs4722999
5 0.851 0.080 7 30654159 intron variant C/T snv 0.67 0.010 1.000 1 2016 2016