Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853129
rs137853129
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894647
rs104894647
SOX9 ; SOX9-AS1
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518216
rs1057518216
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518669
rs1057518669
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs137853128
rs137853128
SOX9 ; SOX9-AS1
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137853130
rs137853130
SOX9 ; SOX9-AS1
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation. 28965976

2018
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations. 25983619

2015
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. 19921652

2009
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. 17352389

2007
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Differentiating campomelic dysplasia from Cumming syndrome. 15754354

2005
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The phenotype of survivors of campomelic dysplasia. 12161603

2002
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Acampomelic campomelic dysplasia with SOX9 mutation. 10951468

2000
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization. 9452059

1998
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Acampomelic campomelic dysplasia: further radiographic variations. 9066880

1997
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A clinical and genetic study of campomelic dysplasia. 7666392

1995
dbSNP: rs1425166755
rs1425166755
SOX9 ; SOX9-AS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. 7485151

1995
dbSNP: rs1555629022
rs1555629022
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555629037
rs1555629037
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555629158
rs1555629158
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555629443
rs1555629443
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1567910689
rs1567910689
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		C 0.700 CausalMutation CLINVAR

dbSNP: rs28940282
rs28940282
SOX9 ; SOX9-AS1
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587776541
rs587776541
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs587776541
rs587776541
SOX9 ; SOX9-AS1
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		GC 0.700 CausalMutation CLINVAR