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: rs121908862
rs121908862
2 0.925 0.120 14 81092563 missense variant T/A snv 0.010 1.000 1 1996 1996
dbSNP: rs121908866
rs121908866
3 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1237473071
rs1237473071
2 0.925 0.040 14 81143791 missense variant T/C snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs189261858
rs189261858
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 < 0.001 1 2009 2009