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.
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.740 1.000 17 2001 2017
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
19 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.710 1.000 10 2001 2016
Compensated hypothyroidism
CUI: C0342162
Disease: Compensated hypothyroidism
1 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2006 2006
Generalized Thyroid Hormone Resistance
34 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2006 2006
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1 2009 2009
Spindle cell hemangioma
CUI: C1304508
Disease: Spindle cell hemangioma
10 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2016 2016
Subclinical hypothyroidism
CUI: C0271790
Disease: Subclinical hypothyroidism
10 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2010 2010
Thyroid Hormone Resistance Syndrome
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
5 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2006 2006