rs1559155800, OBSL1

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Slender long bone
CUI: C1833144
Disease: Slender long bone
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Triangular face
CUI: C1835884
Disease: Triangular face
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Short thorax
CUI: C0426789
Disease: Short thorax
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Enlarged thorax
CUI: C4020962
Disease: Enlarged thorax
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019