SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: BRANCHIOOTIC SYNDROME 3 (disorder) ×
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: rs104894478
rs104894478 		0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 6 2004 2013