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: rs1109166
rs1109166
3 16 67943479 5 prime UTR variant T/C snv 0.32 0.800 1.000 2 2012 2017
dbSNP: rs35673026
rs35673026
2 16 67942948 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 5.0E-04 0.700 1.000 2 2014 2019
dbSNP: rs17240378
rs17240378
6 16 67942790 intron variant G/C;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs199717050
rs199717050
1 16 67942920 missense variant C/G;T snv 4.0E-06; 2.3E-04 2.7E-04 0.700 1.000 1 2017 2017
dbSNP: rs4986970
rs4986970
4 0.925 0.080 16 67942417 missense variant A/C;T snv 4.0E-06; 1.7E-02 0.700 1.000 1 2012 2012