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: rs10505258
rs10505258 		8 115590628 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2008 2017
dbSNP: rs1057518972
rs1057518972 		0.827 0.200 8 115418359 missense variant C/T 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 0.800 1.000 3 2008 2017
dbSNP: rs1057518972
rs1057518972 		0.827 0.200 8 115418359 missense variant C/T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
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: rs11778934
rs11778934 		8 115539178 intron variant C/A;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
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: rs121908431
rs121908431 		1.000 0.080 8 115604099 stop gained G/A;C snv 8.0E-06
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121908432
rs121908432 		1.000 0.080 8 115587144 stop gained G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121908433
rs121908433 		1.000 0.160 8 115418413 missense variant T/G 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 0.800 1.000 2 2001 2002
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: rs121908435
rs121908435 		0.925 0.160 8 115418391 missense variant C/G;T 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 0.800 1.000 3 2001 2017
dbSNP: rs121908435
rs121908435 		0.925 0.160 8 115418391 missense variant C/G;T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2015 2017
dbSNP: rs121908436
rs121908436 		0.925 0.160 8 115418358 missense variant G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
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