BVdb stats page:


Number of papers with variants: 441115

Number of variants identified: 2676222

Number of unique variants identified: 1419155


Top 50 Genes by variant number

Rank Symbol Variant Number
1 BRCA2 6715
2 BRCA1 6473
3 MSH2 6210
4 TP53 5321
5 USH2A 5145
6 TTN 4993
7 CFTR 4356
8 ATM 4354
9 APC 4219
10 EGFR 3645
11 TG 3209
12 TUBA1A 3120
13 NF1 3069
14 ABCA1 2833
15 SMARCA4 2554
16 TET2 2527
17 NOTCH1 2507
18 GC 2344
19 PTEN 2333
20 EGR1 2315
21 PIK3CA 2243
22 SI 2186
23 MUC16 2182
24 KMT2D 2024
25 KMT2C 2018
26 ARID1A 1988
27 POLE 1975
28 LRP1B 1951
29 DNMT3A 1862
30 PC 1790
31 ABCA4 1773
32 KIT 1757
33 DMD 1748
34 ERBB2 1726
35 MSH6 1714
36 MAPK1 1694
37 BRAF 1653
38 FAT1 1623
39 RB1 1621
40 KCNQ1 1607
41 HR 1593
42 ALK 1576
43 TSC2 1573
44 LDLR 1549
45 VWF 1548
46 CREBBP 1533
47 PKD1 1504
48 GAA 1490
49 RYR1 1479
50 FBN1 1472

Top 50 variants by reference number

Rank Variant ID Symbol cDot pDot Consequence Reference Count
1 7-140753336-A-T BRAF c.1799T>A p.V600E Missense 16368
2 7-55181378-C-T EGFR c.2369C>T p.T790M Missense 7282
3 7-55191822-T-G EGFR c.2573T>G p.L858R Missense 6688
4 12-25245350-C-T KRAS c.35G>A p.G12D Missense 5584
5 9-5073770-G-T JAK2 c.1849G>T p.V617F Missense 3805
6 12-25245350-C-A KRAS c.35G>T p.G12V Missense 3391
7 12-25245351-C-A KRAS c.34G>T p.G12C Missense 2855
8 3-179234297-A-G PIK3CA c.3140A>G p.H1047R Missense 2547
9 11-27658369-C-T BDNF c.196G>A p.V66M Missense 2513
10 2-208248388-C-T IDH1 c.395G>A p.R132H Missense 2455
11 22-19963748-G-A COMT c.472G>A p.V158M Missense 2247
12 12-40340400-G-A LRRK2 c.6055G>A p.G2019S Missense 2236
13 3-179218303-G-A PIK3CA c.1633G>A p.E545K Missense 2229
14 12-25245347-C-T KRAS c.38G>A p.G13D Missense 2152
15 13-32299038-T-C FRY c.*3578T>C - IntergenicSNV 2147
16 19-44908684-T-C APOE c.388T>C p.C130R Missense 2116
17 17-7675088-C-T TP53 c.524G>A p.R175H Missense 2000
18 19-44908822-C-T APOE c.526C>T p.R176C Missense 1942
19 17-7673802-C-T TP53 c.818G>A p.R273H Missense 1930
20 7-117559590-ATCT-A CFTR c.1521_1523delCTT p.F508del InFrameDeletion 1828
21 3-179218294-G-A PIK3CA c.1624G>A p.E542K Missense 1495
22 13-32298973-C-T FRY c.*3513C>T - IntergenicSNV 1462
23 1-11796321-G-A MTHFR c.665C>T p.A222V Missense 1461
24 6-26092913-G-A HFE c.845G>A p.C282Y Missense 1357
25 7-140753336-AC-TT BRAF c.1798_1799delinsAA p.V600K Missense 1335
26 7-55191831-T-A EGFR c.2582T>A p.L861Q Missense 1293
27 4-89828149-C-T SNCA c.157G>A p.A53T Missense 1251
28 7-117587806-G-A CFTR c.1652G>A p.G551D Missense 1251
29 22-43928847-C-G PNPLA3 c.444C>G p.I148M Missense 1240
30 16-53786615-T-A FTO c.46-23525T>A - IntronicSNV 1223
31 21-25897627-C-G APP c.2010G>C p.K670N Missense 1188
32 21-25897627-C-A APP c.2010G>T p.K670N Missense 1188
33 12-25245351-C-T KRAS c.34G>A p.G12S Missense 1182
34 12-25245350-C-G KRAS c.35G>C p.G12A Missense 1151
35 17-7674220-C-T TP53 c.743G>A p.R248Q Missense 1126
36 1-114713909-G-T NRAS c.181C>A p.Q61K Missense 1093
37 9-117713024-A-G TLR4 c.896A>G p.D299G Missense 1079
38 17-7674221-G-A TP53 c.742C>T p.R248W Missense 1034
39 1-114713908-T-C NRAS c.182A>G p.Q61R Missense 995
40 12-25245351-C-G KRAS c.34G>C p.G12R Missense 981
41 6-26090951-C-G HFE c.187C>G p.H63D Missense 942
42 4-54733155-A-T KIT c.2447A>T p.D816V Missense 917
43 7-55174014-GGC-TGA EGFR c.2155_2157delGGCinsTGA p.G719* Nonsense 916
44 7-55181399-G-C EGFR c.2390G>C p.C797S Missense 898
45 17-7676154-G-C TP53 c.215C>G p.P72R Missense 888
46 11-67585218-A-G GSTP1 c.313A>G p.I105V Missense 879
47 21-25891784-C-T APP c.2149G>A p.V717I Missense 867
48 7-55181312-G-T EGFR c.2303G>T p.S768I Missense 833
49 7-55181398-T-A EGFR c.2389T>A p.C797S Missense 829
50 4-89835580-C-G SNCA c.88G>C p.A30P Missense 828