SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: Secondary hypothyroidism ×
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: rs1560264452
rs1560264452 		0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		Endocrine System Diseases 0.700 0