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: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.800 1.000 4 2009 2012
dbSNP: rs146017816
rs146017816
2 1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05 0.800 1.000 4 2009 2012
dbSNP: rs368489876
rs368489876
2 1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05 0.800 1.000 4 2009 2012
dbSNP: rs115099192
rs115099192
5 0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 0.800 0
dbSNP: rs199922907
rs199922907
1 1.000 8 11708329 splice donor variant C/T snv 7.0E-06 0.700 1.000 4 2009 2012
dbSNP: rs387906770
rs387906770
2 1.000 8 11708439 splice acceptor variant C/A;T snv 0.700 1.000 4 2009 2012
dbSNP: rs387906769
rs387906769
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.700 0