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 0.790 0.970 33 2002 2019
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 8 2002 2016
dbSNP: rs121913351
rs121913351
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 7 2002 2016
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 7 2002 2016
dbSNP: rs121913361
rs121913361
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 7 2002 2014
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: rs121913357
rs121913357
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913370
rs121913370
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs180177040
rs180177040
9 0.790 0.360 7 140754187 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.090 0.889 9 2003 2019