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: rs121918349
rs121918349
2 0.923 0.107 12 48966271 missense variant G/A,C,T snp 8.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs141402957
rs141402957
1 1.000 0.036 17 7670658 missense variant snp 0.010 < 0.001 1 2016 2016
dbSNP: rs148263925
rs148263925
3 0.878 0.107 19 10712960 missense variant C/T snp 4.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs34201045
rs34201045
1 1.000 0.036 3 189789729 5 prime UTR variant C/CAG,CAGAG,CAGG,CAGGG,CGGAG in-del 7.1E-02; 9.8E-05; 0.36; 3.3E-05 0.010 1.000 1 2008 2008