BVdb stats page:


Number of papers with variants: 263472

Number of variants identified: 1327856

Number of unique variants identified: 566995


Top 50 Genes by variant number

Rank Symbol Variant Number
1 BRCA2 3307
2 TP53 2711
3 BRCA1 2671
4 CFTR 2281
5 EGFR 2105
6 APC 1535
7 ATM 1484
8 NF1 1393
9 KCNQ1 1304
10 SCN5A 1274
11 SI 1237
12 PTEN 1234
13 PIK3CA 1210
14 TTN 1196
15 ABCA4 1157
16 TG 1149
17 KCNH2 1112
18 GC 1046
19 PKD1 1025
20 DMD 1021
21 MSH2 979
22 VWF 966
23 PC 921
24 LDLR 881
25 MLH1 881
26 BRAF 859
27 CD4 859
28 FBN1 834
29 KIT 830
30 RET 829
31 GLA 816
32 TSC2 813
33 HR 811
34 PAH 801
35 ERBB2 800
36 ABCB1 798
37 F8 766
38 EGF 755
39 MSH6 734
40 GAA 722
41 NOTCH1 715
42 MYH7 687
43 PSEN1 676
44 HP 668
45 RYR1 663
46 ESR1 651
47 CDH1 650
48 CP 642
49 NSF 638
50 PALB2 630

Top 50 variants by reference number

Rank Variant ID Symbol cDot pDot Consequence Reference Count
1 7-140453136-A-T BRAF c.1799T>A p.Val600Glu Missense 10528
2 7-55249071-C-T EGFR c.2369C>T p.Thr790Met Missense 4657
3 7-55259515-T-G EGFR c.2573T>G p.Leu858Arg Missense 4563
4 12-25398284-C-T KRAS c.35G>A p.Gly12Asp Missense 3455
5 12-25398284-C-A KRAS c.35G>T p.Gly12Val Missense 2125
6 11-27679916-C-T BDNF c.196G>A p.Val66Met Missense 1983
7 3-178952085-A-G PIK3CA c.3140A>G p.His1047Arg Missense 1755
8 22-19951271-G-A COMT c.472G>A p.Val158Met Missense 1716
9 3-178936091-G-A PIK3CA c.1633G>A p.Glu545Lys Missense 1517
10 2-209113112-C-T IDH1 c.395G>A p.Arg132His Missense 1502
11 12-40734202-G-A LRRK2 c.6055G>A p.Gly2019Ser Missense 1460
12 12-25398285-C-A KRAS c.34G>T p.Gly12Cys Missense 1458
13 19-45411941-T-C APOE c.388T>C p.Cys130Arg Missense 1435
14 12-25398281-C-T KRAS c.38G>A p.Gly13Asp Missense 1433
15 19-45412079-C-T APOE c.526C>T p.Arg176Cys Missense 1366
16 17-7578406-C-T TP53 c.524G>A p.Arg175His Missense 1362
17 7-117199647-CTTT-C CFTR c.1522_1524delTTT p.Phe508delPhe InFrameDeletion 1327
18 17-7577120-C-T TP53 c.818G>A p.Arg273His Missense 1266
19 1-11856378-G-A MTHFR c.665C>T p.Ala222Val Missense 1122
20 6-26093141-G-A HFE c.845G>A p.Cys282Tyr Missense 1073
21 3-178936082-G-A PIK3CA c.1624G>A p.Glu542Lys Missense 1022
22 16-53820527-T-A FTO c.46-23525T>A p.unknown IntronicSNV 917
23 21-27269939-C-A APP c.2010G>T p.Lys670Asn Missense 904
24 21-27269939-C-G APP c.2010G>C p.Lys670Asn Missense 904
25 7-117227860-G-A CFTR c.1652G>A p.Gly551Asp Missense 877
26 9-120475302-A-G TLR4 c.896A>G p.Asp299Gly Missense 866
27 10-114758349-C-T TCF7L2 c.382-41435C>T p.unknown IntronicSNV 858
28 10-114758349-C-G TCF7L2 c.382-41435C>G p.unknown IntronicSNV 858
29 7-55259524-T-A EGFR c.2582T>A p.Leu861Gln Missense 858
30 22-44324727-C-G PNPLA3 c.444C>G p.Ile148Met Missense 822
31 12-25398285-C-T KRAS c.34G>A p.Gly12Ser Missense 816
32 12-25398284-C-G KRAS c.35G>C p.Gly12Ala Missense 757
33 4-90749300-C-T SNCA c.157G>A p.Ala53Thr Missense 742
34 6-26091179-C-G HFE c.187C>G p.His63Asp Missense 742
35 7-87138645-A-G ABCB1 c.3435T>C p.Ile1145Ile Synonymous 730
36 1-115256530-G-T NRAS c.181C>A p.Gln61Lys Missense 730
37 7-87138645-A-T ABCB1 c.3435T>A p.Ile1145Ile Synonymous 722
38 1-115256529-T-C NRAS c.182A>G p.Gln61Arg Missense 674
39 11-67352689-A-G GSTP1 c.313A>G p.Ile105Val Missense 671
40 21-27264096-C-A APP c.2149G>T p.Val717Phe Missense 651
41 17-7577538-C-T TP53 c.743G>A p.Arg248Gln Missense 650
42 17-7577539-G-A TP53 c.742C>T p.Arg248Trp Missense 639
43 17-7579472-G-C TP53 c.215C>G p.Pro72Arg Missense 636
44 12-25398285-C-G KRAS c.34G>C p.Gly12Arg Missense 628
45 4-55599321-A-T KIT c.2447A>T p.Asp816Val Missense 623
46 1-11854476-T-G MTHFR c.1286A>C p.Glu429Ala Missense 618
47 21-27264096-C-T APP c.2149G>A p.Val717Ile Missense 603
48 14-73640371-A-G PSEN1 c.436A>G p.Met146Val Missense 588
49 7-55241707-GGC-TGA EGFR c.2155_2157delGGCinsTGA p.Gly719* Nonsense 580
50 1-114377568-A-G PTPN22 c.1858T>C p.Trp620Arg Missense 567

Top 50 reverences by variant number

Rank PMID Reference Count Publication Date Title Journal
1 32650224 986 07/11/2020 Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing. Neoplasia (New York, N.Y.)
2 32431610 724 05/21/2020 Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome. Frontiers in pharmacology
3 28150151 609 02/03/2017 Structure-based assessment of disease-related mutations in human voltage-gated sodium channels. Protein & cell
4 31872004 572 12/25/2019 Data on a genome-wide association study of type 2 diabetes in a Maya population. Data in brief
5 30275485 473 10/03/2018 Abstracts from the 50th European Society of Human Genetics Conference: Posters. European journal of human genetics : EJHG
6 28809811 470 08/16/2017 Mutation Clusters from Cancer Exome. Genes
7 31270413 458 07/05/2019 Abstracts from the 51st European Society of Human Genetics Conference: Posters. European journal of human genetics : EJHG
8 24944790 454 06/20/2014 Screening for 392 polymorphisms in 141 pharmacogenes. Biomedical reports
9 29048744 410 10/20/2017 Comorbidity of Alcohol Use Disorder and Chronic Pain: Genetic Influences on Brain Reward and Stress Systems. Alcoholism, clinical and experimental research
10 23386860 381 02/07/2013 Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes. Frontiers in genetics
11 28488083 352 05/11/2017 Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. Neuroscience bulletin
12 31935908 350 01/16/2020 Mutations That Confer Drug-Resistance, Oncogenicity and Intrinsic Activity on the ERK MAP Kinases-Current State of the Art. Cells
13 24980784 346 07/02/2014 Wnt signaling pathway pharmacogenetics in non-small cell lung cancer. The pharmacogenomics journal
14 31637880 317 10/23/2019 MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis. Cancer medicine
15 21302341 309 02/09/2011 "Replicated" genome wide association for dependence on illegal substances: genomic regions identified by overlapping clusters of nominally positive SNPs. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
16 15879500 302 05/10/2005 Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Journal of medical genetics
17 16400611 301 01/10/2006 Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. American journal of human genetics
18 29687901 297 04/25/2018 Thick Filament Protein Network, Functions, and Disease Association. Comprehensive Physiology
19 29963304 294 07/03/2018 Six novel susceptibility loci for coronary artery disease and cerebral infarction identified by longitudinal exome-wide association studies in a Japanese population. Biomedical reports
20 31884074 294 12/30/2019 Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses. Gastroenterology
21 31343788 293 07/26/2019 Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Human mutation
22 25157968 288 08/27/2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. The Journal of molecular diagnostics : JMD
23 29642553 286 04/13/2018 Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations. Journal of personalized medicine
38 31134135 243 05/29/2019 Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms. Frontiers in genetics
39 28127413 239 01/28/2017 Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. Hereditary cancer in clinical practice
40 29666641 238 04/19/2018 Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension. International journal of endocrinology
24 17924342 278 10/10/2007 Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. American journal of human genetics
25 21990134 278 10/13/2011 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Human mutation
26 19337156 277 04/02/2009 The IC3D classification of the corneal dystrophies. Cornea
27 19956101 276 12/04/2009 Overview of the Rapid Response data. Genes and immunity
28 27146902 274 05/06/2016 Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples. Journal of translational medicine
29 28421071 273 04/20/2017 Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations. Frontiers in immunology
30 24149131 265 10/24/2013 Candidate gene analysis in israeli soldiers with stress fractures. Journal of sports science & medicine
31 27930701 263 12/09/2016 Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation. PloS one
32 24729694 260 04/15/2014 The genetics of Alzheimer's disease. Clinical interventions in aging
33 17601350 258 07/03/2007 A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. BMC genetics
34 21818250 258 08/06/2011 Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence. PloS one
35 32438681 256 05/23/2020 Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. Cancers
36 30602096 253 01/03/2019 Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer. Genomics & informatics
37 29292755 244 01/03/2018 Dualistic Role of BARD1 in Cancer. Genes
41 28748451 237 07/28/2017 The emerging role and targetability of the TCA cycle in cancer metabolism. Protein & cell
42 20401335 236 04/20/2010 Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype. Genomics insights
43 30984620 234 04/16/2019 Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors. Frontiers in oncology
44 31469255 233 08/31/2019 A genome-wide association and replication study of blood pressure in Ugandan early adolescents. Molecular genetics & genomic medicine
45 32457649 232 05/28/2020 A Bitter Taste in Your Heart. Frontiers in physiology
46 27107574 230 04/25/2016 Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study. BMC medical genomics
47 23028568 229 10/03/2012 Connection between genetic and clinical data in bipolar disorder. PloS one
48 32023956 229 02/07/2020 Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease. International journal of molecular sciences
49 30409984 228 11/10/2018 Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. Scientific reports
50 29267365 227 12/22/2017 Germ-line and somatic EPHA2 coding variants in lens aging and cataract. PloS one