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: rs231150
rs231150 		0.925 0.080 8 115408099 downstream gene variant A/T snv 0.55
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs231150
rs231150 		0.925 0.080 8 115408099 downstream gene variant A/T snv 0.55
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1554616802
rs1554616802 		1.000 0.080 8 115414484 frameshift variant T/- del
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: 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: rs1554616950
rs1554616950 		1.000 0.080 8 115414768 frameshift variant G/- delins
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: rs1554616971
rs1554616971 		1.000 0.080 8 115414831 frameshift variant C/- del
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: rs1554617011
rs1554617011 		1.000 0.080 8 115414924 frameshift variant CTCT/- delins
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: rs1563714392
rs1563714392 		1.000 0.080 8 115415008 frameshift variant -/AAGGCGCT delins
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs28939070
rs28939070 		0.925 0.160 8 115415014 missense variant C/T snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2004 2015
dbSNP: rs28939070
rs28939070 		0.925 0.160 8 115415014 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 0.700 0
dbSNP: rs28939069
rs28939069 		0.925 0.160 8 115415015 missense variant G/A snv
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2004 2015
dbSNP: rs28939069
rs28939069 		0.925 0.160 8 115415015 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: rs1554617078
rs1554617078 		1.000 0.080 8 115415048 frameshift variant -/GTTTTGTT delins
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: rs752405769
rs752405769 		1.000 0.080 8 115415107 intron variant A/C;G snv 4.7E-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: rs1554617549
rs1554617549 		1.000 0.080 8 115418329 splice donor variant C/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: rs1554617561
rs1554617561 		1.000 0.080 8 115418352 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 1.000 1 2015 2015
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
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