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: rs3734354
rs3734354
2 1.000 0.080 6 100420903 missense variant G/A;T snv 1.6E-04; 0.18 0.020 1.000 2 2010 2017
dbSNP: rs3213541
rs3213541
1 1.000 0.080 6 100448367 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs756633599
rs756633599
2 0.925 0.080 6 100447299 missense variant G/A snv 1.6E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs757139012
rs757139012
3 0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05 0.010 < 0.001 1 2013 2013