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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.500 18 2005 2019
dbSNP: rs1245554802
rs1245554802
5 0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06 0.020 0.500 2 2005 2009
dbSNP: rs56053615
rs56053615
4 0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06 0.020 1.000 2 2004 2016
dbSNP: rs746702110
rs746702110
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.020 1.000 2 2010 2013
dbSNP: rs771306418
rs771306418
5 0.851 0.120 3 9765885 splice acceptor variant -/C delins 0.020 0.500 2 2005 2009
dbSNP: rs104893751
rs104893751
5 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs113561019
rs113561019
2 1.000 0.080 3 9756791 missense variant G/A;T snv 3.9E-03; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1400826115
rs1400826115
2 1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1419684880
rs1419684880
1 1.000 0.080 3 9754859 missense variant T/A snv 0.010 1.000 1 2010 2010
dbSNP: rs756363791
rs756363791
4 0.882 0.080 3 9756823 missense variant G/A snv 2.0E-05 0.010 1.000 1 2011 2011