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: rs34576916
rs34576916
1 12 57209288 intron variant C/G snv 4.0E-04 0.700 1.000 1 2012 2012
dbSNP: rs34614287
rs34614287
4 12 57155352 3 prime UTR variant C/G snv 6.8E-04 0.700 1.000 1 2012 2012
dbSNP: rs34630693
rs34630693
4 12 57212472 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs34660894
rs34660894
5 12 57129111 intron variant G/A snv 2.3E-03 1.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs7488264
rs7488264
1 12 57194266 intron variant A/G;T snv 0.700 1.000 1 2012 2012