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: rs121913351
rs121913351
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 13 2002 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 16 2002 2018
dbSNP: rs1057519720
rs1057519720
4 0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 0.700 1.000 9 2002 2013
dbSNP: rs121913369
rs121913369
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 9 2002 2013
dbSNP: rs1057519719
rs1057519719
2 1.000 0.080 7 140781593 missense variant T/C snv 0.700 1.000 8 2002 2013
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2002 2013
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 1 2002 2002
dbSNP: rs180177042
rs180177042
8 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs387906660
rs387906660
7 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
dbSNP: rs387906661
rs387906661
6 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
dbSNP: rs397507466
rs397507466
6 0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs397516895
rs397516895
5 0.827 0.280 7 140753392 missense variant A/T snv 0.700 0
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2006 2018
dbSNP: rs1225976306
rs1225976306
8 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.020 1.000 2 2016 2016
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs868021367
rs868021367
3 0.882 0.080 7 140753319 missense variant C/G snv 0.010 < 0.001 1 2014 2014