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: rs1057518716
rs1057518716 		1.000 0.200 2 219563561 frameshift variant A/- del
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 0
dbSNP: rs1057518717
rs1057518717 		1.000 0.200 2 219557454 stop gained G/A snv 6.8E-06 2.1E-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 0
dbSNP: rs121918215
rs121918215 		1.000 0.200 2 219568188 stop gained G/T snv
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 0
dbSNP: rs121918216
rs121918216 		1.000 0.200 2 219567787 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06
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 0
dbSNP: rs1335171880
rs1335171880 		1.000 0.200 2 219568072 frameshift variant CACGGTGCGC/- delins 7.0E-06
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 0
dbSNP: rs1553538488
rs1553538488 		1.000 0.200 2 219570542 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553538488
rs1553538488 		1.000 0.200 2 219570542 frameshift variant -/G delins
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 0
dbSNP: rs1559160379
rs1559160379 		1.000 0.200 2 219570775 frameshift variant CC/A delins
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 0
dbSNP: rs11893842
rs11893842 		0.925 0.160 2 219572251 intron variant A/G snv 0.45
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11893842
rs11893842 		0.925 0.160 2 219572251 intron variant A/G snv 0.45
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
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