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: rs776035233
rs776035233
5 0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 0.800 1.000 16 1990 2019
dbSNP: rs121908048
rs121908048
1 1.000 0.080 16 67940276 missense variant C/T snv 0.800 1.000 15 1990 2006
dbSNP: rs121908049
rs121908049
1 1.000 0.080 16 67940471 missense variant G/T snv 0.800 1.000 15 1990 2006
dbSNP: rs28940887
rs28940887
1 1.000 0.080 16 67942719 missense variant G/A snv 8.0E-06 2.8E-05 0.800 1.000 15 1990 2006
dbSNP: rs28940888
rs28940888
1 1.000 0.080 16 67940193 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 15 1990 2006
dbSNP: rs28942087
rs28942087
1 1.000 0.080 16 67942413 missense variant A/G snv 4.0E-06 0.800 1.000 15 1990 2006
dbSNP: rs749740660
rs749740660
1 1.000 0.080 16 67942573 missense variant A/T snv 8.0E-06; 4.0E-06 7.0E-06 0.710 1.000 16 1990 2006
dbSNP: rs769485083
rs769485083
2 0.925 0.080 16 67942703 missense variant C/T snv 8.0E-06 7.0E-06 0.710 1.000 15 1990 2006
dbSNP: rs1380009545
rs1380009545
1 1.000 0.080 16 67942704 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 15 1990 2006
dbSNP: rs1461145750
rs1461145750
1 1.000 0.080 16 67943207 missense variant C/T snv 8.0E-06 0.700 1.000 15 1990 2006
dbSNP: rs28940886
rs28940886
1 1.000 0.080 16 67942939 missense variant C/T snv 1.2E-05 0.700 1.000 15 1990 2006
dbSNP: rs780824776
rs780824776
1 1.000 0.080 16 67940424 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 15 1990 2006
dbSNP: rs140068549
rs140068549
2 0.925 0.080 16 67942921 missense variant G/A snv 8.0E-06 2.8E-05 0.700 1.000 2 1997 2012
dbSNP: rs779114194
rs779114194
4 0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs121908054
rs121908054
2 0.925 0.080 16 67940400 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs121908055
rs121908055
1 1.000 0.080 16 67942967 stop gained G/T snv 2.4E-05 3.5E-05 0.700 0
dbSNP: rs267607211
rs267607211
1 1.000 0.080 16 67942686 missense variant A/G snv 0.700 0
dbSNP: rs794726662
rs794726662
1 1.000 0.080 16 67942700 protein altering variant -/CGC delins 0.700 0
dbSNP: rs794726663
rs794726663
1 1.000 0.080 16 67940029 frameshift variant -/T delins 0.700 0
dbSNP: rs971887742
rs971887742
1 1.000 0.080 16 67943992 missense variant G/A snv 2.6E-05 1.4E-05 0.700 0
dbSNP: rs749574144
rs749574144
1 1.000 0.080 16 67943143 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs773925060
rs773925060
1 1.000 0.080 16 67940125 missense variant C/T snv 0.010 1.000 1 1995 1995