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: rs121912717
rs121912717
2 1.000 0.040 11 116835948 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs1264352930
rs1264352930
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.010 1.000 1 1996 1996
dbSNP: rs1384889210
rs1384889210
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 1996 1996
dbSNP: rs670
rs670
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.010 < 0.001 1 2008 2008