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: rs80358233
rs80358233
3 1.000 0.071 9 129814065 inframe deletion CCTC/C in-del 0.700 4 1993 2017
dbSNP: rs1801968
rs1801968
6 0.878 0.036 9 129818622 missense variant C/G,T snp 0.13; 4.0E-06 0.11 0.020 0.500 2 2014 2017
dbSNP: rs727502811
rs727502811
6 0.878 0.071 9 129814108 missense variant C/T snp 9.1E-05 9.6E-05 0.020 1.000 2 2009 2015
dbSNP: rs1182
rs1182
3 1.000 0.036 9 129813781 3 prime UTR variant C/A snp 0.17 0.010 1.000 1 2009 2009
dbSNP: rs35153737
rs35153737
2 9 129813558 3 prime UTR variant AC/A in-del 0.010 1.000 1 2018 2018