rs199422328, ADA

N. diseases: 2
Disease: SCID Due to ADA Deficiency, Early-Onset ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.700 GeneticVariation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612 1998
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
0.700 GeneticVariation CLINVAR Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 8614422 1996