Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569271378
rs1569271378
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
CUI: C4305072
Disease:
X-linked intellectual disability Van Esch type 		G 0.700 CausalMutation CLINVAR Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 31006512 2019
dbSNP: rs1569271892
rs1569271892
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
CUI: C4305072
Disease:
X-linked intellectual disability Van Esch type 		A 0.700 CausalMutation CLINVAR Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 31006512 2019
dbSNP: rs1569277866
rs1569277866
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
CUI: C4305072
Disease:
X-linked intellectual disability Van Esch type 		C 0.700 CausalMutation CLINVAR Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 31006512 2019
dbSNP: rs1569277899
rs1569277899
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
CUI: C4305072
Disease:
X-linked intellectual disability Van Esch type 		A 0.700 CausalMutation CLINVAR Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 31006512 2019
dbSNP: rs1569350993
rs1569350993
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
CUI: C4305072
Disease:
X-linked intellectual disability Van Esch type 		T 0.700 CausalMutation CLINVAR Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 31006512 2019
dbSNP: rs869312979
rs869312979
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
CUI: C1845050
Disease:
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		G 0.700 CausalMutation CLINVAR