Source: ALL
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: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs2280714
rs2280714
TNPO3
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2011 2011
dbSNP: rs35947132
rs35947132
PRF1
10 0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs587777840
rs587777840
NLRC4
4 0.882 0.080 2 32250855 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs729302
rs729302 		6 0.827 0.160 7 128928906 intergenic variant A/C snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
5 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.010 1.000 1 2008 2008