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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 30 2002 2019
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 3 2002 2019
dbSNP: rs121913357
rs121913357
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.710 1.000 2 2002 2015
dbSNP: rs397516896
rs397516896
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 7 2002 2010
dbSNP: rs727502902
rs727502902
4 0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 0.700 1.000 6 2009 2012
dbSNP: rs121913369
rs121913369
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2004 2012
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 3 2002 2010
dbSNP: rs121913351
rs121913351
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 3 2002 2014
dbSNP: rs121913353
rs121913353
3 0.925 0.160 7 140781612 missense variant C/G;T snv 0.700 1.000 2 2003 2004
dbSNP: rs121913378
rs121913378
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 1.000 2 2004 2005
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2004 2004
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs397516897
rs397516897
1 1.000 0.080 7 140753334 inframe deletion TCA/- del 0.700 1.000 1 2002 2002
dbSNP: rs121913370
rs121913370
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 0
dbSNP: rs397516890
rs397516890
1 1.000 0.080 7 140781601 inframe deletion TCC/- del 0.700 0
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 29 2011 2019
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019