SECISBP2, SECIS binding protein 2, 79048

N. diseases: 17; N. variants: 3
Disease: Thyroid Hormone Metabolism, Abnormal ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119461976
rs119461976 		1.000 0.040 9 89348095 missense variant G/A snv 1.2E-05
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		Endocrine System Diseases 0.800 0
dbSNP: rs119461977
rs119461977 		1.000 0.040 9 89341356 stop gained A/G;T snv 1.2E-05
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		Endocrine System Diseases 0.700 0
dbSNP: rs730880269
rs730880269 		1.000 0.040 9 89338609 intron variant G/A snv
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		Endocrine System Diseases 0.700 0