NHS, NHS actin remodeling regulator, 4810

N. diseases: 295; N. variants: 26
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: rs5955543
rs5955543 		1.000 0.160 X 17680277 intron variant A/G snv 0.17
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2012 2012
dbSNP: rs1556038028
rs1556038028 		X 17724421 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 7 2002 2014
dbSNP: rs1556039406
rs1556039406 		1.000 X 17727350 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2002 2014
dbSNP: rs1556039406
rs1556039406 		1.000 X 17727350 frameshift variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 2002 2014
dbSNP: rs132630322
rs132630322 		1.000 0.120 X 17724370 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 1.000 3 2003 2014
dbSNP: rs111534978
rs111534978 		1.000 0.200 X 17727793 stop gained C/A;T snv 4.4E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309679
rs864309679 		1.000 0.200 X 17726875 frameshift variant G/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs104894881
rs104894881 		1.000 0.120 X 17375872 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1341004065
rs1341004065 		1.000 0.120 X 17376034 stop gained G/A;T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1481421967
rs1481421967 		1.000 0.120 X 17731956 missense variant C/G;T snv 5.5E-06
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1556030707
rs1556030707 		1.000 0.120 X 17687893 splice donor variant -/G delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1556038355
rs1556038355 		1.000 0.120 X 17725566 frameshift variant GACA/- delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1556039901
rs1556039901 		1.000 0.120 X 17728262 stop gained A/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1569310232
rs1569310232 		1.000 0.120 X 17692358 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1569310288
rs1569310288 		1.000 0.120 X 17692430 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1569319773
rs1569319773 		1.000 0.120 X 17726583 stop gained G/A snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs786205255
rs786205255 		1.000 0.120 X 17726555 frameshift variant -/C delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs786205256
rs786205256 		1.000 0.120 X 17727627 frameshift variant C/- delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs786205257
rs786205257 		1.000 0.120 X 17721439 splice acceptor variant A/G snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs786205677
rs786205677 		1.000 0.120 X 17692468 splice donor variant G/- delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs875989805
rs875989805 		0.925 0.120 X 17687870 stop gained C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs875989805
rs875989805 		0.925 0.120 X 17687870 stop gained C/T snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs875989805
rs875989805 		0.925 0.120 X 17687870 stop gained C/T snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs875989805
rs875989805 		0.925 0.120 X 17687870 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs150688899
rs150688899 		1.000 0.120 X 17725820 missense variant C/T snv 2.5E-02 6.4E-02
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011