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: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs1288373809
rs1288373809
5 0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs375874539
rs375874539
15 0.732 0.320 17 7674237 missense variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs587782148
rs587782148
2 17 7676113 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs587782529
rs587782529
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998