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: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.100 1.000 11 2004 2019
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.020 1.000 2 2010 2017
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2007 2008
dbSNP: rs1816702
rs1816702
6 0.827 0.120 4 153688371 non coding transcript exon variant T/C snv 0.79 0.010 1.000 1 2009 2009
dbSNP: rs3804100
rs3804100
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs5743704
rs5743704
9 0.763 0.240 4 153704799 missense variant C/A snv 2.8E-02 2.8E-02 0.010 1.000 1 2010 2010