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: rs41341748
rs41341748
6 0.827 0.120 8 16155085 stop gained G/A;C snv 8.3E-03; 2.8E-05 0.060 1.000 6 2004 2006
dbSNP: rs2229388
rs2229388
7 0.807 0.120 8 16155139 missense variant G/A;C snv 4.0E-06; 0.11 0.030 1.000 3 2006 2015
dbSNP: rs72552387
rs72552387
3 0.882 0.080 8 16168568 missense variant C/A;G;T snv 1.6E-03; 4.0E-06 0.030 1.000 3 2003 2006
dbSNP: rs2127565
rs2127565
2 0.925 0.080 8 16129050 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs369108477
rs369108477
2 0.925 0.080 8 16143592 synonymous variant G/A snv 0.010 < 0.001 1 2005 2005
dbSNP: rs3747531
rs3747531
3 0.925 0.080 8 16155139 missense variant G/A;C snv 0.010 1.000 1 2017 2017