Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200092283
rs200092283
Entrez Id: 7158;27229
Gene Symbol: TP53BP1;TUBGCP4
TP53BP1;TUBGCP4
CUI: C4225362
Disease:
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs794726855
rs794726855
Entrez Id: 27229
Gene Symbol: TUBGCP4
TUBGCP4
CUI: C4225362
Disease:
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs794726856
rs794726856
Entrez Id: 27229
Gene Symbol: TUBGCP4
TUBGCP4
CUI: C4225362
Disease:
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 		C 0.700 CausalMutation CLINVAR