Source: ALL
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: rs137852685
rs137852685
NKX2-5
2 0.925 0.120 5 173233062 missense variant C/G snv 8.7E-06 0.010 1.000 1 2006 2006
dbSNP: rs140856315
rs140856315
CDCA8
1 1.000 0.080 1 37703293 missense variant T/G snv 1.5E-04 1.9E-04 0.010 1.000 1 2017 2017
dbSNP: rs201093713
rs201093713
PAX8 ; PAX8-AS1
2 0.925 0.120 2 113241628 missense variant C/G;T snv 2.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs35565540
rs35565540
CDCA8
1 1.000 0.080 1 37700439 missense variant G/A snv 1.2E-03 1.2E-03 0.010 1.000 1 2017 2017