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: rs340874
rs340874
7 0.882 0.080 1 213985913 non coding transcript exon variant T/C snv 0.40 0.830 1.000 8 2010 2019
dbSNP: rs2075423
rs2075423
1 1.000 0.080 1 213981376 non coding transcript exon variant G/T snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs340841
rs340841
1 1.000 0.080 1 213951127 intron variant C/T snv 0.38 0.010 1.000 1 2017 2017