Gene: HYLS1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894232
rs104894232
PUS3 ; HYLS1
0.800 GeneticVariation UNIPROT Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405

2005
dbSNP: rs104894232
rs104894232
PUS3 ; HYLS1
G 0.800 CausalMutation CLINVAR