The new reference genomic sequence used for TP53 is NC_000017 (7512445..7531642) from GenBank.

Only SNP that have been validated by frequency in control unaffected populations are listed here.
Weblinks to databases or publications that provide additional information such as population frequencies or association studies are underlined.

See also haplotype information from the p53KnowledgeBase.

Download this list (85 SNPs)

Exon number Genomic description Coding description Protein description Effect Avg Het SNP link P53KB link PubMed 1-intron g.333T>C c.1-10673T>C p.? intronic 0.040313 34686922 - - 1-intron g.371G>A 1-10635G>A p.? intronic 0.009569 17886250 - - 1-intron g.459T>C c.1-10547T>C p.? intronic 0.017311 17883908 - - 1-intron g.794T>C c.1-10212T>C p.? intronic 0.04533 9905505 - - 1-intron g.1167G>C c.1-9839G>C p.? intronic 0.4422 1794289 - - 1-intron g.1607C>G c.1-9399C>G p.? intronic 0.484392 8064946 - - 1-intron g.2141A>T c.1-8865A>T p.? intronic 0.318634 17883353? - - 1-intron g.2140_2141ins1 c.1-8866_1-8865ins1 p.? intronic 0.318634 17883353 - - 1-intron g.2168C>A c.1-8838C>A p.? intronic 0.037722 17883687 - - 1-intron g.2238del1 c.1-8768del1 p.? intronic 0.294912 17882854 - - 1-intron g.2358T>C c.1-8648T>C p.? intronic 0.315932 17882227 - - 1-intron g.2448T>A c.1-8558T>A p.? intronic 0.315932 17885845 - - 1-intron g.2912T>G c.1-8094T>G p.? intronic 0.29238 9903378 - - 1-intron g.3019A>G c.1-7987A>G p.? intronic 0.280268 17881035 - - 1-intron g.3738A>G c.1-7268A>G p.? intronic 0.2682 11656607 - - 1-intron g.4496T>A c.1-6510T>A p.? intronic 0.035491 17886213 - - 1-intron g.4537C>G c.1-6469C>G p.? intronic 0.036351 17883925 - - 1-intron g.4560G>A c.1-6446G>A p.? intronic 0.0444 - - - 1-intron g.4855A>G c.1-6151A>G p.? intronic 0.03314 17886107 - - 1-intron g.7385_7386ins3 c.1-3619_1-3620ins3 p.? intronic 0.233763 1160901 - - 1-intron g.7389_7390ins3 c.1-3617_1-3615ins3 p.? intronic 0.308 5819163 - - 1-intron g.7691C>T c.1-3315C>T p.? intronic 0.010182 17883373 - - 1-intron g.7720T>C c.1-3286T>C p.? intronic 0.0098 34766441 - - 1-intron g.7835C>T c.1-3171C>T p.? intronic 0.329871 2078486 - - 1-intron g.7846T>C c.1-3160T>C p.? intronic 0.021975 17882863 - - 1-intron g.7905G>C c.1-3101G>C p.? intronic 0.350124 12602273 - - 1-intron g.8044T>C c.1-2962T>C p.? intronic 0.30642 12603869 - - 1-intron g.8198_8199ins3 c.1-2808_1-2807ins3 p.? intronic 0.415494 17886028 - - 1-intron g.8303del(AAAAT)n c.1-2703del(AAAAT)n p.? intronic - - - 17361558 1-intron g.8308ins(AAAAT)n c.1-2698ins(AAAAT)n p.? intronic - - - 17361558 1-intron g.9148_9151del4 c.1-1858_1-1855del4 p.? intronic 0.08888 - - - 1-intron g.9647G>A c.1-1359G>A p.? intronic 0.313272 1794284 - - 1-intron g.9690C>T c.1-1316C>T p.? intronic 0.069561 8078476 - - 1-intron g.9794T>C c.1-1212T>C p.? intronic 0.280268 1642782 - - 1-intron g.9977G>A c.1-1029G>A p.? intronic 0.099563 9897559 - - 1-intron g.10418G>A c.1-588G>A p.? intronic 0.282976 12944939 - - 1-intron g.10866G>A c.1-140G>A p.? intronic 0.152278 8079544 - - 2-intron g.11117C>G c.74+38C>G p.? intronic 0.468059 1642785 11827 8168846 3-intron g.11259_11274del16 c.96+41_96+56del16 p.? intronic 0.5 17878362 11951 8502490 3-intron g.11299C>A c.97-29C>A p.? intronic 0.15648 17883323 11992 - 3-intron g.11322C>T c.97-6C>T p.? intronic 0.0098 35117667 12015 - 4-exon g.11333C>A c.102C>A p.P34P silent - 11575998 12026 12550754 4-exon g.11339G>A c.108G>A p.P36P silent 0.012738 1800370 12032 8302598 4-exon g.11370C>T c.139C>T p.P47S missense 0.029329 1800371 12063 8352280 4-exon g.11446C>G c.215C>G p.P72R missense 0.492248 1042522 12139 7927335 4-intron g.12081T>C c.376-283T>C p.? intronic 0.103733 1794287 12775 - 4-intron g.12239T>C c.376-125T>C p.? intronic 0.157451 9895829 12930 - 4-intron g.12247G>A c.376-117G>A p.? intronic 0.009814 35850753 12938 - 4-intron g.12273G>A c.376-91G>A p.? intronic 0.212093 2909430 12964 - 6-exon g.12708A>G c.639A>G p.R213R silent 0.023526 1800372 13399 1923533 6-exon g.12718G>A c.649G>A p.V217M missense 0.0098 35163653 13409 - 6-intron g.12772A>G c.672+31A>G p.? intronic 0.0098 34949160 13463 - 6-intron g.12803A>G c.672+62A>G p.? intronic 0.210458 1625895 13494 1684850 6-intron g.12961G>T c.672+220G>T p.? intronic 0.011428 8069054 13651 - 6-intron g.13274G>C c.673-36G>C p.? intronic 0.031019 17880604 13964 9434876 7-intron g.13491C>T c.782+72C>T p.? intronic 0.246362 12947788 14181 1679931 7-intron g.13511T>G c.782+92T>G p.? intronic 0.310766 12951053 14201 11682637 7-intron g.13544C>T c.782+125C>T p.? intronic - 1642787 14234 11378583 8-intron g.13987C>T c.920-5C>T p.? intronic 0.00994 34361146 14676 - 9-intron g.14077T>C c.993+12T>C p.? intronic 0.038835 1800899 14766 10508562 9-intron g.14417C>T c.993+352C>T p.? intronic 0.09714 - - - 9-intron g.14496C>T c.993+431C>T p.? intronic 0.3432 1642791 15192 - 9-intron g.15185T>C c.993+1120T>C p.? intronic 0.256705 12949655 15880 - 9-intron g.15982G>A c.994-903G>A p.? intronic 0.134012 858528 16678 - 9-intron g.16054G>A c.994-831G>A p.? intronic 0.084938 9891744 16748 - 9-intron g.16139G>A c.994-746G>A p.? intronic 0.143457 1641548 16833 - 9-intron g.16143G>A c.994-742G>A p.? intronic 0.401235 1641549 16837 - 9-intron g.16197G>A c.994-688G>A p.? intronic 0.022219 17879377 16891 - 9-intron g.16422_16423ins1 c.994-463_994-462ins1 p.? intronic 0.01111 - - - 9-intron g.16603C>G c.994-282C>G p.? intronic 0.064753 17883852 - - 10-exon g.16970G>C c.1079G>C p.G360A missense 0.009892 35993958 17657 - 10-intron g.17021A>T c.1100+30A>T p.? intronic 0.011049 17880847 17708 - 10-intron g.17469G>A c.1101-441G>A p.? intronic 0.056449 17881097 18158 - 10-intron g.17689G>A c.1101-221G>A p.? intronic 0.118444 6503048 18378 - 10-intron g.17861C>T c.1101-49C>T p.? intronic 0.011696 17881850 18550 - 11-exon g.18096C>T c.1182+105C>T p.? silent 0.019761 35919705 - - 11-exon g.18196G>A c.1182+205G>A p.? silent 0.024239 16956880 - - 11-exon g.18305G>A c.1182+314G>A p.? NA 0.019569 34486624 - - 11-exon g.18319G>A c.1182+328G>A p.? NA 0.010246 17881366 - - 11-exon g.18476G>A c.1182+485G>A p.? NA 0.091723 4968187 - - 11-exon g.18560_18561del2 c.1182+569_1182+570del2 p.? NA 0.436246 17886358 - - 11-exon g.18604C>A c.1182+613C>A p.? NA 0.023872 17879353 - - 11-exon g.18817G>A c.1182+826G>A p.? NA 0.136576 17884306 - - 11-exon g.18877G>A c.1182+886G>A p.? NA 0.009892 35659787 - - 11-exon g.19166A>C c.1182+1175A>C p.? intronic 0.00555 - - -