Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373046018
rs373046018
POLR1C
0.800 GeneticVariation UNIPROT Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409

2015
dbSNP: rs373046018
rs373046018
POLR1C
A 0.800 CausalMutation CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060

1978