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: rs74315329
rs74315329
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.070 0.857 7 1999 2017
dbSNP: rs199746824
rs199746824
6 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs566289099
rs566289099
6 0.807 0.080 1 171636310 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2003 2003
dbSNP: rs74315328
rs74315328
6 0.807 0.120 1 171636131 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs74315330
rs74315330
9 0.776 0.080 1 171636331 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs74315341
rs74315341
4 0.851 0.040 1 171636686 missense variant C/T snv 0.010 1.000 1 2008 2008