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: rs1554354370
rs1554354370
1 1.000 0.120 7 107672228 missense variant C/T snv 0.700 1.000 12 1998 2017
dbSNP: rs397516414
rs397516414
2 0.925 0.160 7 107690178 missense variant G/A snv 0.700 1.000 12 1998 2017
dbSNP: rs539699299
rs539699299
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.700 1.000 12 1998 2017
dbSNP: rs542620119
rs542620119
2 0.925 0.160 7 107674302 missense variant G/C snv 9.1E-05 3.5E-05 0.700 1.000 12 1998 2017
dbSNP: rs760413427
rs760413427
2 0.925 0.160 7 107674187 missense variant A/G snv 8.0E-06 0.700 1.000 12 1998 2017
dbSNP: rs192366176
rs192366176
4 0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 7 2005 2016
dbSNP: rs111033348
rs111033348
3 0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06 0.700 1.000 5 2000 2017
dbSNP: rs111033257
rs111033257
2 0.925 0.160 7 107700162 missense variant G/A snv 1.4E-05 0.700 1.000 4 1998 2016
dbSNP: rs121908365
rs121908365
2 0.925 0.160 7 107672230 missense variant T/A;C snv 0.700 1.000 4 2002 2017
dbSNP: rs146281367
rs146281367
2 0.925 0.160 7 107683537 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2009 2017
dbSNP: rs1554360358
rs1554360358
3 0.925 0.160 7 107698076 missense variant A/C snv 0.700 1.000 4 2007 2014
dbSNP: rs1554354787
rs1554354787
2 0.925 0.160 7 107674188 missense variant T/C snv 0.700 1.000 3 2006 2017
dbSNP: rs1554355011
rs1554355011
2 1.000 0.120 7 107674944 splice acceptor variant G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs200455203
rs200455203
4 0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05 0.700 1.000 3 2007 2014
dbSNP: rs397516413
rs397516413
2 0.925 0.160 7 107690171 frameshift variant T/- delins 7.0E-06 0.700 1.000 3 2008 2015
dbSNP: rs727503430
rs727503430
2 0.925 0.160 7 107704386 splice donor variant G/A snv 1.3E-05 2.8E-05 0.700 1.000 3 2004 2014
dbSNP: rs1060499808
rs1060499808
2 0.925 0.160 7 107704344 missense variant T/C snv 8.9E-06 0.700 1.000 2 2004 2018
dbSNP: rs141142414
rs141142414
1 1.000 0.120 7 107663427 missense variant C/A;G;T snv 4.0E-06; 2.0E-05 0.700 1.000 2 2006 2017
dbSNP: rs1554352676
rs1554352676
2 1.000 0.120 7 107663357 missense variant C/T snv 0.700 1.000 2 2007 2014
dbSNP: rs749013429
rs749013429
2 1.000 0.120 7 107702030 missense variant C/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 2 2014 2016
dbSNP: rs786204739
rs786204739
3 0.925 0.160 7 107698083 missense variant T/G snv 0.700 1.000 2 2007 2017
dbSNP: rs121908366
rs121908366
1 1.000 0.120 7 107696035 missense variant C/A snv 0.700 1.000 1 2008 2008
dbSNP: rs137853074
rs137853074
1 1.000 0.120 1 160041491 missense variant G/A;T snv 1.8E-04 0.700 1.000 1 2009 2009
dbSNP: rs1399914687
rs1399914687
2 1.000 0.120 7 107704370 missense variant T/C;G snv 4.4E-06 0.700 1.000 1 2014 2014
dbSNP: rs1554352234
rs1554352234
2 1.000 0.120 7 107661723 missense variant A/G snv 0.700 1.000 1 2014 2014