rs759549373, DYNC2H1

N. diseases: 4
Disease: Saldino-Noonan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
0.700 GeneticVariation CLINVAR