Disease: Trichorhinophalangeal Syndrome, Type III ×
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: 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: 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: 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: rs886040971
rs886040971 		0.683 0.280 8 115604339 stop gained G/A;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 1.000 5 2001 2017
dbSNP: rs751565386
rs751565386 		0.925 0.160 8 115418392 stop gained G/A;T snv 8.0E-06
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 1.000 2 2015 2017
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: 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: rs1563623987
rs1563623987 		0.925 0.160 8 115587133 stop gained A/C 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: rs1563637033
rs1563637033 		0.925 0.160 8 115604264 frameshift variant ATGGAGCTGTT/- 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: rs1563638577
rs1563638577 		0.925 0.160 8 115604951 frameshift variant -/GCAA 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: 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: 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: rs368166434
rs368166434 		0.851 0.200 8 115603883 stop gained G/A;C 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