NODAL, nodal growth differentiation factor, 4838

N. diseases: 89; 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: rs121909283
rs121909283 		0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 2 1997 2009
dbSNP: rs121909283
rs121909283 		0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1993 2014
dbSNP: rs104894169
rs104894169 		1.000 0.120 10 70435629 missense variant C/T snv 8.8E-05 2.2E-04
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 1997 2009
dbSNP: rs781366461
rs781366461 		1.000 0.120 10 70435354 missense variant G/A snv 5.2E-05
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 1997 2009
dbSNP: rs10999334
rs10999334 		1.000 0.120 10 70435570 missense variant C/T snv 4.3E-04 1.6E-04
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121909283
rs121909283 		0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121909283
rs121909283 		0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1310479365
rs1310479365 		1.000 0.120 10 70435327 missense variant C/A snv 7.0E-06
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1564667180
rs1564667180 		1.000 0.120 10 70435470 frameshift variant GGTGCCTC/- delins
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1564667617
rs1564667617 		1.000 0.120 10 70435984 splice acceptor variant C/A snv
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs555563029
rs555563029 		1.000 0.120 10 70435353 missense variant C/T snv 4.0E-06
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs755116310
rs755116310 		1.000 0.080 10 70435342 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs878855044
rs878855044 		1.000 0.120 10 70435285 splice donor variant C/T snv 7.0E-06
CUI: C3495537
Disease: Heterotaxy, Visceral, 5, Autosomal
Heterotaxy, Visceral, 5, Autosomal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1904589
rs1904589 		1.000 0.040 10 70435683 missense variant T/C snv 0.62 0.56
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1904589
rs1904589 		1.000 0.040 10 70435683 missense variant T/C snv 0.62 0.56
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2231947
rs2231947 		1.000 0.080 10 70434098 intron variant G/A snv 0.18
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis 		Female Urogenital Diseases and Pregnancy Complications; Infections 0.010 1.000 1 2018 2018