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: rs878853280
rs878853280
4 1.000 9 109137529 stop gained G/A snp 0.700 1 2017 2017
dbSNP: rs878853281
rs878853281
4 1.000 9 109141360 stop gained C/T snp 4.0E-06 0.700 1 2017 2017
dbSNP: rs878853283
rs878853283
4 1.000 9 109149675 frameshift variant A/AT in-del 0.700 1 2017 2017
dbSNP: rs121918304
rs121918304
4 0.923 0.071 22 32498453 stop gained C/A,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs6280
rs6280
31 0.652 0.357 3 114171968 missense variant C/T snp 0.63 0.56 0.010 < 0.001 1 2009 2009
dbSNP: rs796065306
rs796065306
4 1.000 0.071 3 123319754 missense variant C/T snp 0.010 1.000 1 2016 2016
dbSNP: rs864309484
rs864309484
4 1.000 0.071 3 123291354 missense variant A/T snp 0.010 1.000 1 2016 2016