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: rs587777076
rs587777076 		1.000 0.200 18 10784872 missense variant T/A snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs587777452
rs587777452 		0.925 0.240 18 10671633 missense variant C/A;G;T snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs587777453
rs587777453 		1.000 0.200 18 10789114 missense variant T/A;C snv 7.0E-06
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs587777454
rs587777454 		1.000 0.200 18 10671571 missense variant A/G snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2013 2014
dbSNP: rs11080466
rs11080466 		1.000 0.080 18 10899030 intron variant A/G snv 0.31
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.800 1.000 1 2012 2012
dbSNP: rs587777450
rs587777450 		0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2014 2014
dbSNP: rs587777451
rs587777451 		1.000 0.160 18 10671730 missense variant G/A snv
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 1 2014 2014
dbSNP: rs886039823
rs886039823 		1.000 18 10715678 missense variant C/G;T snv 7.2E-06
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.800 0
dbSNP: rs1555639568
rs1555639568 		1.000 18 10758112 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2007 2017
dbSNP: rs587777450
rs587777450 		0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2007 2017
dbSNP: rs587777450
rs587777450 		0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2007 2017
dbSNP: rs745895175
rs745895175 		1.000 18 10680240 frameshift variant G/- delins 1.2E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2007 2017
dbSNP: rs1568069621
rs1568069621 		0.925 0.080 18 10797517 stop gained G/A snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2017 2020
dbSNP: rs1568069621
rs1568069621 		0.925 0.080 18 10797517 stop gained G/A snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 2 2017 2020
dbSNP: rs11665020
rs11665020 		18 10879505 intron variant G/A;C snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs12455924
rs12455924 		18 11064410 intron variant C/T snv 0.16
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1555621138
rs1555621138 		0.925 0.200 18 10671603 inframe deletion TCT/- delins
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450 		0.790 0.320 18 10671729 missense variant C/T snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020
dbSNP: rs587777450
rs587777450 		0.790 0.320 18 10671729 missense variant C/T snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450 		0.790 0.320 18 10671729 missense variant C/T snv
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs724159993
rs724159993 		1.000 0.120 18 10671541 stop gained TCTAGTCC/- delins
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs8093481
rs8093481 		1.000 0.080 18 10695159 intron variant A/G snv 0.36
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs878853135
rs878853135 		1.000 0.200 18 10671578 frameshift variant T/- del
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs878853137
rs878853137 		1.000 0.200 18 10689746 missense variant G/A snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs878853138
rs878853138 		1.000 0.200 18 10696257 missense variant G/A snv
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014