OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
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: rs762334954
rs762334954 		1.000 0.200 2 219568063 frameshift variant -/T delins 8.1E-06; 1.6E-04 9.1E-05
CUI: C2752041
Disease: Three M Syndrome 2
Three M Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 3 2009 2015
dbSNP: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2019 2019
dbSNP: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C1833144
Disease: Slender long bone
Slender long bone 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2019 2019
dbSNP: rs35009641
rs35009641 		2 219568235 missense variant G/A;T snv 3.9E-02; 8.1E-06
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		0.700 1.000 1 2019 2019