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 0.050 0.600 5 2009 2017
dbSNP: rs1816702
rs1816702
6 0.827 0.120 4 153688371 non coding transcript exon variant T/C snv 0.79 0.020 1.000 2 2014 2014
dbSNP: rs11938228
rs11938228
4 0.882 0.120 4 153700794 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2014 2014