MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338827
rs80338827
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs867593888
rs867593888
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1854520
Disease:
SEBASTIAN SYNDROME 		C 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs136211
rs136211
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2294358
rs2294358
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs776420285
rs776420285
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0562350
Disease:
Hip circumference 		G 0.700 GeneticVariation GWASCAT A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure. 30108283 2018
dbSNP: rs2071732
rs2071732
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs3752462
rs3752462
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE <i>MYH9</i> rs3752462 (T>C) and <i>APOL1</i> rs136161 (C>G) were genotyped in 303 DKD patients and 364 type 2 diabetes mellitus (T2DM) patients without kidney disease using the TaqMan SNP genotyping assay. 29862302 2018
dbSNP: rs3752462
rs3752462
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0022658
Disease:
Kidney Diseases 		0.010 GeneticVariation BEFREE <i>MYH9</i> rs3752462 (T>C) and <i>APOL1</i> rs136161 (C>G) were genotyped in 303 DKD patients and 364 type 2 diabetes mellitus (T2DM) patients without kidney disease using the TaqMan SNP genotyping assay. 29862302 2018
dbSNP: rs3752462
rs3752462
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0011881
Disease:
Diabetic Nephropathy 		0.010 GeneticVariation BEFREE Our results suggest that <i>MYH9</i> rs3752462 is significantly associated with an increased risk of DKD in Chinese Han individuals. 29862302 2018
dbSNP: rs4821480
rs4821480
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.030 GeneticVariation BEFREE One variant, rs4821480, in MYH9 was significantly associated with increased risk of development of CKD (OR = 1.69, 95% CI 1.22-2.36, P = 0.002), but the additional variants were not statistically significant given our modest sample size. 29665793 2018
dbSNP: rs2269529
rs2269529
Entrez Id: 4627;102465491
Gene Symbol: MYH9;MIR6819
MYH9;MIR6819
CUI: C4321245
Disease:
Cleft lip or lips 		0.010 GeneticVariation BEFREE In subphenotype analysis, these 2 SNPs were associated with cleft lip only (CLO) and cleft lip with palate (CLP), and rs2269529 was also associated with cleft palate only (CPO). 29207917 2018
dbSNP: rs2269529
rs2269529
Entrez Id: 4627;102465491
Gene Symbol: MYH9;MIR6819
MYH9;MIR6819
CUI: C0008925
Disease:
Cleft Palate 		0.010 GeneticVariation BEFREE In subphenotype analysis, these 2 SNPs were associated with cleft lip only (CLO) and cleft lip with palate (CLP), and rs2269529 was also associated with cleft palate only (CPO). 29207917 2018
dbSNP: rs2269529
rs2269529
Entrez Id: 4627;102465491
Gene Symbol: MYH9;MIR6819
MYH9;MIR6819
CUI: C0008924
Disease:
Cleft upper lip 		0.010 GeneticVariation BEFREE In subphenotype analysis, these 2 SNPs were associated with cleft lip only (CLO) and cleft lip with palate (CLP), and rs2269529 was also associated with cleft palate only (CPO). 29207917 2018
dbSNP: rs2269529
rs2269529
Entrez Id: 4627;102465491
Gene Symbol: MYH9;MIR6819
MYH9;MIR6819
CUI: C1837218
Disease:
Cleft palate, isolated 		0.010 GeneticVariation BEFREE In subphenotype analysis, these 2 SNPs were associated with cleft lip only (CLO) and cleft lip with palate (CLP), and rs2269529 was also associated with cleft palate only (CPO). 29207917 2018
dbSNP: rs2269529
rs2269529
Entrez Id: 4627;102465491
Gene Symbol: MYH9;MIR6819
MYH9;MIR6819
CUI: C2981150
Disease:
Uranostaphyloschisis 		0.010 GeneticVariation BEFREE In subphenotype analysis, these 2 SNPs were associated with cleft lip only (CLO) and cleft lip with palate (CLP), and rs2269529 was also associated with cleft palate only (CPO). 29207917 2018
dbSNP: rs13053731
rs13053731
Entrez Id: 4627;102465491
Gene Symbol: MYH9;MIR6819
MYH9;MIR6819
CUI: C1285654
Disease:
Memory performance 		0.700 GeneticVariation GWASCAT Genome-wide association study of language performance in Alzheimer's disease. 28577822 2017
dbSNP: rs3752462
rs3752462
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.010 GeneticVariation BEFREE The rs3752462 polymorphism of MYH9 is associated with SBP in patients with CKD. 27924804 2016
dbSNP: rs136211
rs136211
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs136211
rs136211
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs5750250
rs5750250
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0011881
Disease:
Diabetic Nephropathy 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). 26305897 2015
dbSNP: rs121913657
rs121913657
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1863659
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 17 		A 0.700 CausalMutation CLINVAR Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. 26226608 2016
dbSNP: rs80338826
rs80338826
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L. 26226608 2016
dbSNP: rs80338827
rs80338827
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L. 26226608 2016
dbSNP: rs80338829
rs80338829
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L. 26226608 2016
dbSNP: rs80338830
rs80338830
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L. 26226608 2016