SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: Preauricular dimple ×
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: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs797044960
rs797044960 		0.925 0.200 14 60648817 missense variant C/T snv
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011