Disease: HYDROLETHALUS SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894232
rs104894232
Entrez Id: 83480;219844
Gene Symbol: PUS3;HYLS1
PUS3;HYLS1
CUI: C1856016
Disease:
HYDROLETHALUS SYNDROME 1 		0.800 GeneticVariation UNIPROT Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. 15843405 2005
dbSNP: rs104894232
rs104894232
Entrez Id: 83480;219844
Gene Symbol: PUS3;HYLS1
PUS3;HYLS1
CUI: C1856016
Disease:
HYDROLETHALUS SYNDROME 1 		G 0.800 CausalMutation CLINVAR