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: rs121912744
rs121912744
1 1.000 0.160 17 44255707 missense variant C/T snv 0.750 1.000 5 1998 2008
dbSNP: rs121912751
rs121912751
4 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.740 0.750 4 2006 2010
dbSNP: rs121912745
rs121912745
9 0.807 0.200 17 44255708 missense variant G/A;T snv 0.710 1.000 1 2003 2003
dbSNP: rs121912746
rs121912746
1 1.000 0.160 17 44255259 missense variant G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs878853002
rs878853002
1 1.000 0.160 17 44255272 missense variant C/T snv 0.710 1.000 1 2017 2017
dbSNP: rs121912748
rs121912748
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.100 1.000 10 1999 2010
dbSNP: rs121912753
rs121912753
5 0.827 0.200 17 44251583 missense variant A/G snv 0.020 1.000 2 2004 2006
dbSNP: rs121912754
rs121912754
3 0.882 0.200 17 44255292 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs765891978
rs765891978
1 1.000 0.160 17 44258106 missense variant G/A;T snv 4.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs999716
rs999716
1 1.000 0.160 17 44262056 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016