Disease: SIFRIM-HITZ-WEISS SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201992075
rs201992075
Entrez Id: 1108;677780
Gene Symbol: CHD4;SCARNA11
CHD4;SCARNA11
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs201992075
rs201992075
Entrez Id: 1108;677780
Gene Symbol: CHD4;SCARNA11
CHD4;SCARNA11
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT