SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
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: rs587776541
rs587776541 		0.925 0.200 17 72123592 frameshift variant -/C delins
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776541
rs587776541 		0.925 0.200 17 72123592 frameshift variant -/C delins
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1042667
rs1042667 		1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1042667
rs1042667 		1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1042667
rs1042667 		1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs73354570
rs73354570 		1.000 0.080 17 72125316 3 prime UTR variant A/C snv 6.7E-02
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1567910689
rs1567910689 		1.000 0.080 17 72122778 missense variant A/C snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs104894647
rs104894647 		0.925 0.080 17 72122804 missense variant A/G snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 12 1995 2013
dbSNP: rs769269532
rs769269532 		1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		Musculoskeletal Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs769269532
rs769269532 		1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2019 2019
dbSNP: rs104894647
rs104894647 		0.925 0.080 17 72122804 missense variant A/G snv
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555629158
rs1555629158 		1.000 0.080 17 72122802 missense variant A/G snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137853128
rs137853128 		0.925 0.080 17 72121618 missense variant C/A snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 12 1995 2013
dbSNP: rs1407667250
rs1407667250 		1.000 0.080 17 72121727 missense variant C/A snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 12 1995 2013
dbSNP: rs137853128
rs137853128 		0.925 0.080 17 72121618 missense variant C/A snv
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs80338688
rs80338688 		0.925 0.200 17 72124177 stop gained C/A;G;T snv 3.3E-04
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80338688
rs80338688 		0.925 0.200 17 72124177 stop gained C/A;G;T snv 3.3E-04
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518216
rs1057518216 		1.000 0.080 17 72124037 stop gained C/A;T snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs866706988
rs866706988 		0.925 0.200 17 72122795 missense variant C/A;T snv
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs866706988
rs866706988 		0.925 0.200 17 72122795 missense variant C/A;T snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555629022
rs1555629022 		1.000 0.080 17 72121643 stop gained C/G snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137853129
rs137853129 		1.000 0.080 17 72122749 missense variant C/G;T snv 4.0E-06
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 12 1995 2013
dbSNP: rs2229989
rs2229989 		0.925 0.120 17 72122794 missense variant C/G;T snv 0.19
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2229989
rs2229989 		0.925 0.120 17 72122794 missense variant C/G;T snv 0.19
CUI: C1865783
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28940282
rs28940282 		0.925 0.080 17 72122780 missense variant C/T snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 12 1995 2013