Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199529397
rs199529397
RET
0.020 GeneticVariation BEFREE Somehow, this RET R114H mutation proved to have a role in the etiology of both CIPO and HSCR and could contribute to a more diffuse imbalance of gut dysmotility.© 2016 Wiley Periodicals, Inc. 27273837

2016
dbSNP: rs199529397
rs199529397
RET
0.020 GeneticVariation BEFREE This suggests that RET(R114H) is a founder mutation for HSCR in the Chinese population. 20532249

2010