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: rs2124440
rs2124440
2 2 181463487 intron variant G/A snv 0.55 0.700 1.000 3 2013 2017
dbSNP: rs10562650
rs10562650
2 2 181459460 intron variant TT/-;T;TTT delins 0.56 0.700 1.000 1 2016 2016
dbSNP: rs12988934
rs12988934
3 2 181458938 non coding transcript exon variant C/T snv 5.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs1375493
rs1375493
3 2 181459039 non coding transcript exon variant G/A snv 0.56 0.700 1.000 1 2014 2014
dbSNP: rs148495678
rs148495678
2 2 181508703 intron variant TAAA/-;TAAATAAA delins 0.25 0.700 1.000 1 2016 2016
dbSNP: rs201013030
rs201013030
2 2 181459461 intron variant T/C snv 0.700 1.000 1 2017 2017