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: rs766305306
rs766305306
1 1.000 0.071 10 31520904 frameshift variant A/AG in-del 0.700 1 2015 2015
dbSNP: rs121909211
rs121909211
12 0.744 0.143 5 136046407 missense variant G/A,T snp 4.0E-05 0.070 1.000 7 1998 2011
dbSNP: rs121909209
rs121909209
5 0.821 0.071 5 136056781 missense variant G/A snp 0.040 1.000 4 2000 2007
dbSNP: rs121909208
rs121909208
7 0.801 0.071 5 136056780 missense variant C/T snp 0.020 1.000 2 2000 2002
dbSNP: rs121909210
rs121909210
11 0.734 0.143 5 136046406 missense variant C/A,T snp 4.0E-06; 4.0E-06 3.2E-05 0.020 1.000 2 1998 2002
dbSNP: rs121909215
rs121909215
6 0.801 0.143 5 136060898 missense variant G/A snp 0.020 1.000 2 2005 2009
dbSNP: rs140082655
rs140082655
OGA
1 1.000 0.071 10 101798141 missense variant C/T snp 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs749377554
rs749377554
2 0.923 0.071 17 82938126 missense variant snp 1.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs775453008
rs775453008
2 0.923 0.071 17 82941431 missense variant G/A,T snp 3.5E-05; 4.8E-05 3.2E-05; 3.2E-05 0.010 1.000 1 2002 2002