Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Thyroid Dyshormonogenesis 3
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
16 0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
Familial dyshormonogenetic goiter
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
5 0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2010 2010
Severe hypothyroidism
CUI: C0271791
Disease: Severe hypothyroidism
2 0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2010 2010
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.851 0.160 8 133017940 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2010 2010