rs2076739, TG

N. diseases: 5
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 0.827 0.200 8 132971804 missense variant T/A snv 0.800 1.000 6 1999 2016
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.827 0.200 8 132971804 missense variant T/A snv 0.020 1.000 2 1999 2004
Adenomatous goiter
CUI: C0311361
Disease: Adenomatous goiter
4 0.827 0.200 8 132971804 missense variant T/A snv 0.010 1.000 1 1999 1999
Congenital goiter
CUI: C0349476
Disease: Congenital goiter
3 0.827 0.200 8 132971804 missense variant T/A snv 0.010 1.000 1 1999 1999
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.827 0.200 8 132971804 missense variant T/A snv 0.010 1.000 1 2004 2004