SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
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: rs7153648
rs7153648 		0.925 0.080 14 60655808 intron variant C/A;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.710 1.000 2 2014 2018
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: rs104894478
rs104894478 		0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2004 2009
dbSNP: rs104894478
rs104894478 		0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs1060499595
rs1060499595 		0.925 0.160 14 60648730 stop gained T/A snv
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 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: rs797044960
rs797044960 		0.925 0.200 14 60648817 missense variant C/T snv
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80356460
rs80356460 		1.000 0.120 14 60648791 inframe deletion CCT/- delins
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.700 0
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: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C0079037
Disease: Branchial Clefts-Congenital disorder
Branchial Clefts-Congenital disorder 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 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
dbSNP: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs863223330
rs863223330 		0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs7153648
rs7153648 		0.925 0.080 14 60655808 intron variant C/A;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
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
dbSNP: rs797044960
rs797044960 		0.925 0.200 14 60648817 missense variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011