Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. 25522177 2015
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. 9695949 1998
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0426415
Disease:
Large nose 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. 25522177 2015
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C4024166
Disease:
Crumpled ear 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. 9695949 1998
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0221353
Disease:
Horseshoe Kidney 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
dbSNP: rs489337
rs489337
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0236773
Disease:
Depressed bipolar I disorder 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
dbSNP: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028754
Disease:
Obesity 		A 0.810 GeneticVariation GWASCAT Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. 23563609 2013
dbSNP: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028754
Disease:
Obesity 		0.810 GeneticVariation BEFREE The pooled odds ratios of the A-allele of rs564343 in PACS1 for obesity and severe obesity were 1.180 (p = 0.03) and 1.312 (p = 0.004), respectively. 28564656 2017
dbSNP: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028754
Disease:
Obesity 		A 0.810 GeneticVariation GWASDB Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. 23563609 2013
dbSNP: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028756
Disease:
Obesity, Morbid 		0.010 GeneticVariation BEFREE We showed for the first time that the rs564343 in PACS1 was associated with risk of severe obesity in a non-European population. 28564656 2017
dbSNP: rs801738
rs801738
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0596887
Disease:
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs801742
rs801742
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018