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: rs11722228
rs11722228
6 0.851 0.160 4 9914117 intron variant C/T snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs1470756514
rs1470756514
1 1.000 0.040 4 9941975 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16890979
rs16890979
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.010 1.000 1 2014 2014
dbSNP: rs3733591
rs3733591
2 0.925 0.040 4 9920506 missense variant C/T snv 0.25 0.17 0.010 1.000 1 2014 2014
dbSNP: rs773837458
rs773837458
1 1.000 0.040 4 9834927 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014