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: rs121918474
rs121918474
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.030 1.000 3 2006 2010
dbSNP: rs12634349
rs12634349
1 1.000 0.040 3 93882955 intron variant A/G snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs13062355
rs13062355
1 1.000 0.040 3 93969667 intron variant G/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1396452003
rs1396452003
2 0.925 0.120 3 93879173 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs6441600
rs6441600
1 1.000 0.040 3 93956895 intron variant C/G snv 0.97 0.010 1.000 1 2019 2019