OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Disease: Short neck ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760929207
rs760929207
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
CUI: C0521525
Disease:
Short neck 		G 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019