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: rs137853006
rs137853006
11 0.776 0.080 4 16013299 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs564754426
rs564754426
1 1.000 1 197435035 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1402837406
rs1402837406
3 0.882 0.080 9 2718093 frameshift variant CC/-;CCC delins 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs775179967
rs775179967
2 1.000 6 38791670 missense variant A/G snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs121918284
rs121918284
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs62407622
rs62407622
1 1.000 6 79947369 5 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs240307
rs240307
1 1.000 6 79947515 5 prime UTR variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs35365413
rs35365413
2 0.925 0.120 8 86628994 missense variant A/C;T snv 5.9E-04; 4.4E-05 0.800 0
dbSNP: rs397515360
rs397515360
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 0
dbSNP: rs281865407
rs281865407
1 1.000 1 93996137 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 1.000 19 1997 2014
dbSNP: rs61748521
rs61748521
1 1.000 1 93997869 missense variant G/A;C snv 4.0E-06; 1.1E-04 0.700 1.000 19 1997 2014
dbSNP: rs886044764
rs886044764
1 1.000 1 93997877 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs61750659
rs61750659
1 1.000 1 93997904 missense variant A/G snv 6.8E-05 1.4E-05 0.700 1.000 19 1997 2014
dbSNP: rs61753046
rs61753046
2 0.925 0.040 1 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06 0.700 1.000 5 2000 2017
dbSNP: rs886044763
rs886044763
1 1.000 1 93997943 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 2 2000 2017
dbSNP: rs61753045
rs61753045
1 1.000 1 93997981 stop gained G/T snv 0.700 1.000 3 2000 2017
dbSNP: rs886044762
rs886044762
1 1.000 1 93998075 missense variant T/C snv 0.700 1.000 2 2009 2017
dbSNP: rs281865405
rs281865405
1 1.000 1 94000836 missense variant T/C snv 0.700 1.000 19 1997 2014
dbSNP: rs61751384
rs61751384
2 0.925 0.080 1 94000866 missense variant C/T snv 2.4E-05 4.9E-05 0.800 1.000 25 1997 2017
dbSNP: rs61750656
rs61750656
1 1.000 1 94000867 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 19 1997 2014
dbSNP: rs61750655
rs61750655
1 1.000 1 94000869 missense variant C/A;T snv 5.6E-05 0.700 1.000 19 1997 2014
dbSNP: rs61750654
rs61750654
5 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.710 1.000 1 2002 2002
dbSNP: rs61750653
rs61750653
1 1.000 1 94000900 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.700 1.000 19 1997 2014
dbSNP: rs61750652
rs61750652
1 1.000 1 94000924 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 19 1997 2014
dbSNP: rs61753043
rs61753043
1 1.000 1 94001000 splice donor variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 2 2003 2017