CCN6, cellular communication network factor 6, 8838

N. diseases: 126; N. variants: 21
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: rs121908903
rs121908903 		1.000 0.040 6 112069555 missense variant T/C snv
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.810 0.909 11 1999 2018
dbSNP: rs121908899
rs121908899 		1.000 0.040 6 112064842 missense variant G/A;C snv
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.800 1.000 10 1999 2018
dbSNP: rs121908902
rs121908902 		1.000 0.040 6 112061174 missense variant T/C snv
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.800 1.000 10 1999 2018
dbSNP: rs782813346
rs782813346 		1.000 0.040 6 112068282 missense variant T/C;G snv 1.2E-05 7.0E-06
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.710 1.000 10 1999 2018
dbSNP: rs121908901
rs121908901 		1.000 0.040 6 112061098 stop gained C/A;T snv 4.0E-05; 4.0E-06 2.1E-05
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 1.000 5 1999 2018
dbSNP: rs1554314738
rs1554314738 		6 112069431 frameshift variant -/C delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2012 2018
dbSNP: rs781986930
rs781986930 		1.000 0.040 6 112069565 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2012 2018
dbSNP: rs727503755
rs727503755 		1.000 0.040 6 112068352 frameshift variant GT/- delins 8.0E-06 7.0E-06
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 1.000 4 1999 2012
dbSNP: rs1562595388
rs1562595388 		1.000 0.040 6 112061175 missense variant G/A snv
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 1.000 3 2012 2015
dbSNP: rs781986930
rs781986930 		1.000 0.040 6 112069565 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 1.000 3 2012 2016
dbSNP: rs121908900
rs121908900 		1.000 0.040 6 112069548 stop gained G/A snv 4.0E-06
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1562599153
rs1562599153 		1.000 0.040 6 112068307 frameshift variant T/- del
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs781838640
rs781838640 		1.000 0.040 6 112069421 frameshift variant AG/- delins
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797044438
rs797044438 		1.000 0.040 6 112061188 frameshift variant A/- del
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797044439
rs797044439 		1.000 0.040 6 112054406 splice donor variant -/T delins
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797044440
rs797044440 		1.000 0.040 6 112069393 frameshift variant T/- delins
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs863223286
rs863223286 		1.000 0.040 6 112069416 frameshift variant -/AC delins 4.8E-05
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs879255273
rs879255273 		0.925 0.040 6 112064998 splice donor variant G/A snv
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		Musculoskeletal Diseases 0.700 0
dbSNP: rs879255273
rs879255273 		0.925 0.040 6 112064998 splice donor variant G/A snv
CUI: C1859697
Disease: Enlargement of the proximal femoral epiphysis
Enlargement of the proximal femoral epiphysis 		0.700 0
dbSNP: rs879255273
rs879255273 		0.925 0.040 6 112064998 splice donor variant G/A snv
CUI: C1833328
Disease: Enlarged epiphyses
Enlarged epiphyses 		0.700 0
dbSNP: rs879255273
rs879255273 		0.925 0.040 6 112064998 splice donor variant G/A snv
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		0.700 0
dbSNP: rs879255273
rs879255273 		0.925 0.040 6 112064998 splice donor variant G/A snv
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		0.700 0
dbSNP: rs879255273
rs879255273 		0.925 0.040 6 112064998 splice donor variant G/A snv
CUI: C1859700
Disease: Enlarged metacarpophalangeal joints
Enlarged metacarpophalangeal joints 		0.700 0
dbSNP: rs879255273
rs879255273 		0.925 0.040 6 112064998 splice donor variant G/A snv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 0
dbSNP: rs1022313
rs1022313 		1.000 0.080 6 112053741 upstream gene variant G/A snv 0.22
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018