BVdb stats page:


Number of papers with variants: 479596

Number of variants identified: 27951588

Number of unique variants identified: 11963463


Top 50 Genes by variant number

Rank Symbol Variant Number
1 TTN 41588
2 BRCA2 34738
3 TG 34468
4 MUC16 22766
5 BRCA1 22113
6 MSH2 17914
7 DMD 15904
8 BLM 14804
9 ATM 14293
10 FLNA 14285
11 KMT2D 13568
12 SYNE1 13553
13 APC 13281
14 USH2A 13191
15 LRP1B 12497
16 GAA 12164
17 KMT2C 11499
18 GC 11390
19 NF1 11111
20 ADGRV1 11093
21 RYR2 11044
22 ATP7A 10958
23 ITGA2B 10953
24 ALK 10686
25 TP53 9965
26 RYR1 9686
27 BTK 9582
28 EGFR 9568
29 NEB 9529
30 MUC4 9510
31 KIT 9466
32 GCK 9284
33 RET 9057
34 TET2 8998
35 KCNIP4 8889
36 ARID1A 8816
37 APOB 8769
38 PCLO 8752
39 NOTCH1 8730
40 PTPN11 8614
41 FLG 8592
42 CSMD3 8450
43 BMPR2 8417
44 EGR1 8350
45 FAT1 8301
46 DNAH5 8236
47 AHNAK2 8144
48 LRP2 7880
49 MUC17 7785
50 HMCN1 7779

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 15115
2 7-55181378-C-T EGFR c.2369C>T p.T790M Missense 6775
3 7-55191822-T-G EGFR c.2573T>G p.L858R Missense 6663
4 12-25245350-C-T KRAS c.35G>A p.G12D Missense 5760
5 9-5073770-G-T JAK2 c.1849G>T p.V617F Missense 3720
6 12-25245350-C-A KRAS c.35G>T p.G12V Missense 3645
7 12-25245351-C-A KRAS c.34G>T p.G12C Missense 2965
8 3-179234297-A-G PIK3CA c.3140A>G p.H1047R Missense 2904
9 3-179218303-G-A PIK3CA c.1633G>A p.E545K Missense 2624
10 2-208248388-C-T IDH1 c.395G>A p.R132H Missense 2523
11 17-7675088-C-T TP53 c.524G>A p.R175H Missense 2458
12 12-25245347-C-T KRAS c.38G>A p.G13D Missense 2424
13 17-7673802-C-T TP53 c.818G>A p.R273H Missense 2287
14 22-19963748-G-A COMT c.472G>A p.V158M Missense 2161
15 19-44908684-T-C APOE c.388T>C p.C130R Missense 2149
16 12-40340400-G-A LRRK2 c.6055G>A p.G2019S Missense 2147
17 11-27658369-C-T BDNF c.196G>A p.V66M Missense 2135
18 19-44908822-C-T APOE c.526C>T p.R176C Missense 1972
19 3-179218294-G-A PIK3CA c.1624G>A p.E542K Missense 1849
20 7-117559590-ATCT-A CFTR c.1521_1523delCTT p.F508del InFrameDeletion 1646
21 17-7674220-C-T TP53 c.743G>A p.R248Q Missense 1564
22 1-11796321-G-A MTHFR c.665C>T p.A222V Missense 1536
23 7-55191831-T-A EGFR c.2582T>A p.L861Q Missense 1473
24 17-7674221-G-A TP53 c.742C>T p.R248W Missense 1449
25 12-25245350-C-G KRAS c.35G>C p.G12A Missense 1421
26 6-26092913-G-A HFE c.845G>A p.C282Y Missense 1414
27 12-25245351-C-T KRAS c.34G>A p.G12S Missense 1414
28 7-140753336-AC-TT BRAF c.1798_1799delGTinsAA p.V600K Missense 1394
29 1-114713909-G-T NRAS c.181C>A p.Q61K Missense 1386
30 1-114713908-T-C NRAS c.182A>G p.Q61R Missense 1253
31 7-117587806-G-A CFTR c.1652G>A p.G551D Missense 1242
32 4-89828149-C-T SNCA c.157G>A p.A53T Missense 1221
33 12-25245351-C-G KRAS c.34G>C p.G12R Missense 1215
34 22-43928847-C-G PNPLA3 c.444C>G p.I148M Missense 1210
35 21-25897627-C-G APP c.2010G>C p.K670N Missense 1197
36 21-25897627-C-A APP c.2010G>T p.K670N Missense 1197
37 16-53786615-T-A FTO c.46-23525T>A - IntronicSNV 1171
38 17-7673803-G-A TP53 c.817C>T p.R273C Missense 1157
39 4-54733155-A-T KIT c.2447A>T p.D816V Missense 1066
40 9-117713024-A-G TLR4 c.896A>G p.D299G Missense 1058
41 17-7676154-G-C TP53 c.215C>G p.P72R Missense 1017
42 17-7674872-T-C TP53 c.659A>G p.Y220C Missense 1010
43 6-26090951-C-G HFE c.187C>G p.H63D Missense 1007
44 12-25227341-T-G KRAS c.183A>C p.Q61H Missense 1005
45 7-55181312-G-T EGFR c.2303G>T p.S768I Missense 963
46 7-55174014-GGC-TGA EGFR c.2155_2157delGGCinsTGA p.G719* Nonsense 953
47 11-67585218-A-G GSTP1 c.313A>G p.I105V Missense 947
48 17-7673776-G-A TP53 c.844C>T p.R282W Missense 934
49 7-55181399-G-C EGFR c.2390G>C p.C797S Missense 927
50 2-208248389-G-A IDH1 c.394C>T p.R132C Missense 921