Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553538488
rs1553538488
INHA ; OBSL1
CUI: C0349588
Disease: Short stature
Short stature 		CG 0.700 GeneticVariation CLINVAR

dbSNP: rs1559155800
rs1559155800
OBSL1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs760929207
rs760929207
OBSL1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019