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: rs1555629443
rs1555629443 		1.000 0.080 17 72124229 stop gained C/T snv
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: rs28940282
rs28940282 		0.925 0.080 17 72122780 missense variant C/T snv
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic 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: 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: 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: 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: 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: 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