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: rs45546039
rs45546039
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.710 1.000 9 2008 2012
dbSNP: rs137854618
rs137854618
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2011 2017
dbSNP: rs199473153
rs199473153
4 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs199473076
rs199473076
3 0.925 0.120 3 38609950 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs41261344
rs41261344
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs727504801
rs727504801
3 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 1.000 5 1998 2012
dbSNP: rs41310765
rs41310765
5 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.030 1.000 3 2008 2014
dbSNP: rs199473161
rs199473161
2 1.000 0.080 3 38586038 missense variant G/A;T snv 0.700 1.000 4 2005 2014
dbSNP: rs1805124
rs1805124
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018