Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3131379
rs3131379
MSH5 ; MSH5-SAPCD1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.810 GeneticVariation GWASCAT Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. 26316170

2016
dbSNP: rs3131379
rs3131379
MSH5 ; MSH5-SAPCD1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.810 GeneticVariation GWASCAT Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 18204446

2008
dbSNP: rs1144709
rs1144709
MSH5 ; MSH5-SAPCD1 ; LOC105375020
CUI: C0596887
Disease: mathematical ability
mathematical ability 		T 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: rs1144709
rs1144709
MSH5 ; MSH5-SAPCD1 ; LOC105375020
CUI: C0596887
Disease: mathematical ability
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: rs149544854
rs149544854
MSH5 ; MSH5-SAPCD1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026

2017
dbSNP: rs149544854
rs149544854
MSH5 ; MSH5-SAPCD1
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026

2017
dbSNP: rs17207524
rs17207524
MSH5 ; MSH5-SAPCD1
CUI: C0018498
Disease: Hair Color
Hair Color 		T 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825

2018
dbSNP: rs17207524
rs17207524
MSH5 ; MSH5-SAPCD1
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018
dbSNP: rs1802127
rs1802127
MSH5 ; SAPCD1 ; MSH5-SAPCD1
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		T 0.700 GeneticVariation GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883

2019
dbSNP: rs28399987
rs28399987
MSH5 ; SAPCD1 ; MSH5-SAPCD1
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		A 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533

2015
dbSNP: rs3131378
rs3131378
MSH5 ; MSH5-SAPCD1
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730

2017
dbSNP: rs409558
rs409558
MSH5 ; MSH5-SAPCD1 ; LOC105375020
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		C 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269

2017
dbSNP: rs409558
rs409558
MSH5 ; MSH5-SAPCD1 ; LOC105375020
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		G 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448

2016
dbSNP: rs707938
rs707938
MSH5 ; SAPCD1 ; MSH5-SAPCD1
CUI: C1314691
Disease: Age at menarche
Age at menarche 		A 0.700 GeneticVariation GWASCAT Elucidating the genetic architecture of reproductive ageing in the Japanese population. 29773799

2018
dbSNP: rs707938
rs707938
MSH5 ; SAPCD1 ; MSH5-SAPCD1
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018
dbSNP: rs707938
rs707938
MSH5 ; SAPCD1 ; MSH5-SAPCD1
CUI: C1629609
Disease: Age at menopause
Age at menopause 		G 0.700 GeneticVariation GWASCAT Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 26414677

2015
dbSNP: rs707939
rs707939
MSH5 ; MSH5-SAPCD1
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		A 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026

2017
dbSNP: rs707939
rs707939
MSH5 ; MSH5-SAPCD1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		A 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026

2017