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: rs121434286
rs121434286
2 1.000 0.107 16 28482500 stop gained C/A,T snp 2.4E-05 3.2E-05 0.820 1.000 6 1993 2012
dbSNP: rs386833730
rs386833730
1 1.000 0.107 16 28486464 missense variant C/G snp 4.0E-06 0.810 1.000 2 2006 2012
dbSNP: rs386833695
rs386833695
1 1.000 0.107 16 28482160 missense variant C/T snp 2.4E-05 3.2E-05 0.800 8 1997 2014
dbSNP: rs386833694
rs386833694
2 0.923 0.107 16 28482161 missense variant G/A,T snp 4.0E-06 0.800 2 1997 2012
dbSNP: rs386833714
rs386833714
1 1.000 0.107 16 28487734 missense variant A/G snp 0.800 2 1997 2012
dbSNP: rs386833727
rs386833727
1 1.000 0.107 16 28486602 missense variant A/G snp 0.800 2 1997 2012
dbSNP: rs386833744
rs386833744
2 0.923 0.143 16 28482173 missense variant C/A,T snp 2.0E-05 6.4E-05 0.800 2 1997 2012
dbSNP: rs386833719
rs386833719
1 1.000 0.107 16 28487516 missense variant A/C,G snp 4.0E-06 0.800 1 2012 2012
dbSNP: rs386833731
rs386833731
1 1.000 0.107 16 28486459 missense variant C/A,G snp 4.0E-06 0.800 1 2012 2012
dbSNP: rs267606737
rs267606737
3 0.923 0.107 16 28486427 stop gained G/T snp 4.0E-06 0.700 3 2009 2012
dbSNP: rs386833702
rs386833702
1 1.000 0.107 16 28477636 splice acceptor variant C/A snp 8.0E-06 0.700 2 1997 2012
dbSNP: rs386833720
rs386833720
1 1.000 0.107 16 28487492 frameshift variant AC/A in-del 4.0E-06 0.700 2 1997 2012
dbSNP: rs386833721
rs386833721
1 1.000 0.107 16 28486663 non coding transcript exon variant C/A,G,T snp 4.5E-06; 1.3E-05 0.700 2 1997 2012
dbSNP: rs386833696
rs386833696
1 1.000 0.107 16 28482113 frameshift variant AG/A in-del 0.700 1 2012 2012
dbSNP: rs386833697
rs386833697
1 1.000 0.107 16 28482107 stop gained G/A snp 8.1E-06 3.2E-05 0.700 1 2012 2012
dbSNP: rs386833698
rs386833698
1 1.000 0.107 16 28482102 splice region variant T/G snp 0.700 1 2012 2012
dbSNP: rs386833699
rs386833699
1 1.000 0.107 16 28482105 missense variant C/G snp 0.700 1 2012 2012
dbSNP: rs386833700
rs386833700
1 1.000 0.107 16 28491502 stop gained C/T snp 4.0E-06 0.700 1 2012 2012
dbSNP: rs386833701
rs386833701
1 1.000 0.107 16 28477739 stop gained C/A,G snp 4.0E-06 3.2E-05 0.700 1 2012 2012
dbSNP: rs386833703
rs386833703
1 1.000 0.107 16 28477586 missense variant T/C snp 4.0E-06 3.2E-05 0.700 1 2012 2012
dbSNP: rs386833704
rs386833704
1 1.000 0.107 16 28491477 splice region variant C/T snp 1.6E-05 0.700 1 2012 2012
dbSNP: rs386833705
rs386833705
1 1.000 0.107 16 28489387 splice acceptor variant C/T snp 4.2E-06 0.700 1 2012 2012
dbSNP: rs386833706
rs386833706
1 1.000 0.107 16 28477565 stop gained G/A,T snp 8.0E-06 0.700 1 2012 2012
dbSNP: rs386833707
rs386833707
1 1.000 0.107 16 28477561 frameshift variant GC/G in-del 0.700 1 2012 2012
dbSNP: rs386833708
rs386833708
1 1.000 0.107 16 28491759 start lost T/C,G snp 8.0E-06 0.700 1 2012 2012