RBM10, RNA binding motif protein 10, 8241

N. diseases: 99; N. variants: 8
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: rs1556779417
rs1556779417 		1.000 X 47181541 frameshift variant GT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1970 2017
dbSNP: rs1556779417
rs1556779417 		1.000 X 47181541 frameshift variant GT/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1970 2017
dbSNP: rs1556779417
rs1556779417 		1.000 X 47181541 frameshift variant GT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1970 2017
dbSNP: rs1556770954
rs1556770954 		1.000 0.160 X 47169456 frameshift variant C/- del
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1131690789
rs1131690789 		1.000 X 47181316 frameshift variant AG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1131690789
rs1131690789 		1.000 X 47181316 frameshift variant AG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 0
dbSNP: rs1556778986
rs1556778986 		1.000 0.160 X 47181214 splice acceptor variant G/A snv
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267607000
rs267607000 		1.000 0.160 X 47180493 stop gained G/A snv
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886044715
rs886044715 		1.000 0.160 X 47182268 frameshift variant -/A delins
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886044718
rs886044718 		1.000 0.160 X 47173143 stop gained C/T snv
CUI: C1839463
Disease: TARP syndrome
TARP syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs868917893
rs868917893 		X 47171183 missense variant G/T snv 6.0E-06
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		0.010 1.000 1 2019 2019