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
dbSNP: rs121909770
rs121909770 		1.000 0.040 14 60648826 missense variant A/T snv
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
dbSNP: rs80356459
rs80356459 		1.000 0.040 14 60648862 missense variant G/A snv
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
dbSNP: rs397515560
rs397515560 		1.000 0.040 14 60648873 missense variant A/C snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2004 2013
dbSNP: rs397515561
rs397515561 		1.000 0.040 14 60648856 missense variant G/A snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2004 2013
dbSNP: rs397515562
rs397515562 		1.000 0.040 14 60649140 missense variant A/T snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2004 2013
dbSNP: rs1060499595
rs1060499595 		0.925 0.160 14 60648730 stop gained T/A snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1064794308
rs1064794308 		1.000 0.040 14 60648861 missense variant C/T snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0