SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: WAARDENBURG SYNDROME, TYPE 4A ×
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: rs1569167515
rs1569167515 		0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs1569169328
rs1569169328 		0.925 0.200 22 37978136 splice acceptor variant C/T snv
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs74315521
rs74315521 		0.882 0.120 22 37974148 stop gained G/A snv
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2002 2002