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: rs11554273
rs11554273
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1333998849
rs1333998849
2 0.925 0.040 5 143295540 missense variant T/C snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs386352352
rs386352352
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2014 2016
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.040 1.000 4 2012 2020
dbSNP: rs6189
rs6189
6 0.827 0.240 5 143400774 missense variant C/A;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs6190
rs6190
6 0.827 0.120 5 143400772 missense variant C/G;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs76308115
rs76308115
5 0.851 0.080 2 178014454 stop gained G/A snv 2.9E-03 2.9E-03 0.010 1.000 1 2016 2016