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: rs1384750266
rs1384750266
1 1.000 0.040 19 55154199 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs267607129
rs267607129
2 0.925 0.040 19 55151912 missense variant G/C snv 0.010 1.000 1 2009 2009
dbSNP: rs267607130
rs267607130
2 0.925 0.040 19 55157052 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs730881071
rs730881071
2 1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 0.010 1.000 1 2003 2003