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: rs2069566
rs2069566
TG ; LOC105375768
4 0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs57659670
rs57659670
DUOX2
2 0.925 0.120 15 45106240 missense variant T/C snv 9.8E-02 0.17 0.010 1.000 1 2011 2011
dbSNP: rs732609
rs732609
TPO
5 0.827 0.160 2 1496155 missense variant A/C;G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs746165975
rs746165975
DUOX2
2 0.925 0.120 15 45106254 frameshift variant -/T delins 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs758368355
rs758368355
TPO
1 1.000 0.120 2 1477452 missense variant C/A;T snv 8.3E-06 0.010 1.000 1 2015 2015