Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369488804
rs369488804
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C4225190
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		0.800 GeneticVariation UNIPROT TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. 26833330 2016
dbSNP: rs782531869
rs782531869
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C4225190
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		0.800 GeneticVariation UNIPROT TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. 26833330 2016
dbSNP: rs369488804
rs369488804
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C4225190
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		A 0.800 CausalMutation CLINVAR
dbSNP: rs782531869
rs782531869
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C4225190
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		C 0.800 CausalMutation CLINVAR
dbSNP: rs869025586
rs869025586
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C4225190
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		0.800 GeneticVariation UNIPROT
dbSNP: rs869025586
rs869025586
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C4225190
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp 		C 0.800 CausalMutation CLINVAR
dbSNP: rs13469
rs13469
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2
CUI: C0005938
Disease:
Bone Density 		C 0.700 GeneticVariation GWASCAT Joint Association Analysis Identified 18 New Loci for Bone Mineral Density. 30690781 2019
dbSNP: rs13469
rs13469
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs2073867
rs2073867
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs3032928
rs3032928
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2
CUI: C2985280
Disease:
Blood Protein Measurement 		CTTT 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs11448856
rs11448856
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C3489791
Disease:
Parkinson Disease, Familial, Type 1 		0.010 GeneticVariation BEFREE Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.The mechanisms are unknown. 17012252 2006
dbSNP: rs67934205
rs67934205
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C3489791
Disease:
Parkinson Disease, Familial, Type 1 		0.010 GeneticVariation BEFREE Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.The mechanisms are unknown. 17012252 2006
dbSNP: rs868988300
rs868988300
Entrez Id: 26073;147007
Gene Symbol: POLDIP2;TMEM199
POLDIP2;TMEM199
CUI: C3489791
Disease:
Parkinson Disease, Familial, Type 1 		0.010 GeneticVariation BEFREE Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.The mechanisms are unknown. 17012252 2006