Source: BEFREE ×
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: rs4986790
rs4986790
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2004 2018
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs5030717
rs5030717
9 0.807 0.240 9 117711556 intron variant A/G snv 0.13 0.010 < 0.001 1 2018 2018
dbSNP: rs5030718
rs5030718
8 0.827 0.200 9 117713548 stop gained G/A;T snv 3.1E-03; 8.0E-06 0.010 1.000 1 2018 2018