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: rs1057518791
rs1057518791 		0.925 0.120 8 115604739 stop gained C/T snv
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.700 0
dbSNP: rs1057518791
rs1057518791 		0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0241703
Disease: High pitched voice
High pitched voice 		0.700 0
dbSNP: rs1057518791
rs1057518791 		0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518791
rs1057518791 		0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518791
rs1057518791 		0.925 0.120 8 115604739 stop gained C/T snv
CUI: C1837770
Disease: Sparse hair
Sparse hair 		0.700 0
dbSNP: rs1057518791
rs1057518791 		0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0
dbSNP: rs1057518791
rs1057518791 		0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518972
rs1057518972 		0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518972
rs1057518972 		0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057518972
rs1057518972 		0.827 0.200 8 115418359 missense variant C/T snv
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		0.700 0
dbSNP: rs1057518972
rs1057518972 		0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908430
rs121908430 		1.000 0.080 8 115604916 stop gained G/T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908434
rs121908434 		1.000 0.080 8 115414593 stop gained G/C snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908436
rs121908436 		0.925 0.160 8 115418358 missense variant G/A snv
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554593085
rs1554593085 		0.925 0.160 8 115587497 frameshift variant GATGTCCTGT/- delins
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554593085
rs1554593085 		0.925 0.160 8 115587497 frameshift variant GATGTCCTGT/- delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554596063
rs1554596063 		0.925 0.160 8 115604319 frameshift variant GC/- del
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554596063
rs1554596063 		0.925 0.160 8 115604319 frameshift variant GC/- del
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554596418
rs1554596418 		1.000 0.080 8 115604926 missense variant C/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554617582
rs1554617582 		0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554617582
rs1554617582 		0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		0.700 0
dbSNP: rs1554617582
rs1554617582 		0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1554617582
rs1554617582 		0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554617582
rs1554617582 		0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs1554617582
rs1554617582 		0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 0