ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
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: rs104894961
rs104894961 		1.000 0.120 X 137567449 missense variant G/C snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 6 1997 2014
dbSNP: rs104894962
rs104894962 		1.000 0.120 X 137569054 missense variant A/G snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 6 1997 2014
dbSNP: rs122462165
rs122462165 		1.000 0.120 X 137567659 missense variant C/T snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs122463168
rs122463168 		1.000 0.120 X 137567454 missense variant T/G snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs104894963
rs104894963 		1.000 0.120 X 137567340 missense variant C/G snv 1.5E-03 6.4E-03
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 6 1997 2014
dbSNP: rs373628598
rs373628598 		1.000 0.120 X 137567017 missense variant C/G snv 2.8E-05 1.4E-04
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 3 2004 2014
dbSNP: rs147232392
rs147232392 		0.882 0.240 X 137566740 missense variant G/A;T snv 2.6E-03
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1990 1990
dbSNP: rs104894960
rs104894960 		1.000 0.120 X 137567436 stop gained C/T snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1203069392
rs1203069392 		1.000 0.120 X 137567446 stop gained C/A;T snv 5.5E-06
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs122462166
rs122462166 		1.000 0.120 X 137567495 stop gained C/A snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs122463167
rs122463167 		1.000 0.120 X 137567448 missense variant T/A snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1556029841
rs1556029841 		1.000 0.120 X 137567166 frameshift variant ACTT/- delins
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569345504
rs1569345504 		1.000 0.120 X 137566819 stop gained C/A snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569345723
rs1569345723 		1.000 0.120 X 137567225 frameshift variant -/G delins
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569345742
rs1569345742 		1.000 0.120 X 137567282 frameshift variant CATACCGCCCAGTGGCC/- delins
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs387906498
rs387906498 		1.000 X 137569063 stop gained A/T snv
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		0.700 0
dbSNP: rs398122850
rs398122850 		1.000 0.200 X 137566853 inframe insertion -/GCCGCC delins
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886041111
rs886041111 		1.000 0.120 X 137567455 missense variant G/C snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs147232392
rs147232392 		0.882 0.240 X 137566740 missense variant G/A;T snv 2.6E-03
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs147232392
rs147232392 		0.882 0.240 X 137566740 missense variant G/A;T snv 2.6E-03
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs201398331
rs201398331 		0.925 0.120 X 137566789 missense variant C/T snv 1.1E-04 3.7E-05
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs201398331
rs201398331 		0.925 0.120 X 137566789 missense variant C/T snv 1.1E-04 3.7E-05
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013