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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs41115

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr5:112840073 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.390215 (103286/264690, TOPMED)
G=0.350274 (87694/250358, GnomAD_exome)
G=0.385347 (68752/178416, ALFA) (+ 20 more)
G=0.408232 (57106/139886, GnomAD)
G=0.351430 (42542/121054, ExAC)
G=0.14230 (2385/16760, 8.3KJPN)
G=0.41378 (5380/13002, GO-ESP)
G=0.3345 (1675/5008, 1000G)
G=0.4310 (1931/4480, Estonian)
G=0.3713 (1431/3854, ALSPAC)
G=0.3827 (1419/3708, TWINSUK)
G=0.1553 (455/2930, KOREAN)
G=0.3593 (679/1890, HapMap)
G=0.1441 (264/1832, Korea1K)
G=0.361 (360/998, GoNL)
G=0.213 (131/614, Vietnamese)
G=0.403 (242/600, NorthernSweden)
G=0.404 (216/534, MGP)
G=0.215 (109/506, SGDP_PRJ)
G=0.421 (128/304, FINRISK)
G=0.324 (70/216, Qatari)
G=0.23 (11/48, Siberian)
G=0.25 (10/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
APC : Synonymous Variant
Publications
14 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 5 NC_000005.10:g.112840073G>A
GRCh37.p13 chr 5 NC_000005.9:g.112175770G>A
APC RefSeqGene (LRG_130) NG_008481.4:g.152553G>A
Gene: APC, APC regulator of WNT signaling pathway (plus strand)
Molecule type Change Amino acid[Codon] SO Term
APC transcript variant 3 NM_000038.6:c.4479G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform b NP_000029.2:p.Thr1493= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 15 NM_001354906.2:c.3630G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform m NP_001341835.1:p.Thr1210= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 13 NM_001354904.2:c.4101G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform k NP_001341833.1:p.Thr1367= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 6 NM_001354897.2:c.4509G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform d NP_001341826.1:p.Thr1503= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 11 NM_001354902.2:c.4206G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform i NP_001341831.1:p.Thr1402= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 14 NM_001354905.2:c.3999G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform l NP_001341834.1:p.Thr1333= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 4 NM_001354895.2:c.4479G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform b NP_001341824.1:p.Thr1493= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 7 NM_001354898.2:c.4404G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform e NP_001341827.1:p.Thr1468= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 5 NM_001354896.2:c.4533G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform c NP_001341825.1:p.Thr1511= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 10 NM_001354901.2:c.4302G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform h NP_001341830.1:p.Thr1434= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 9 NM_001354900.2:c.4356G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform g NP_001341829.1:p.Thr1452= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 8 NM_001354899.2:c.4395G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform f NP_001341828.1:p.Thr1465= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 12 NM_001354903.2:c.4176G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform j NP_001341832.1:p.Thr1392= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 2 NM_001127510.3:c.4479G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform b NP_001120982.1:p.Thr1493= T (Thr) > T (Thr) Synonymous Variant
APC transcript variant 1 NM_001127511.3:c.4425G>A T [ACG] > T [ACA] Coding Sequence Variant
adenomatous polyposis coli protein isoform a NP_001120983.2:p.Thr1475= T (Thr) > T (Thr) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 51412 )
ClinVar Accession Disease Names Clinical Significance
RCV000035071.12 not specified Benign
RCV000074234.1 Familial colorectal cancer Other
RCV000162372.2 Hereditary cancer-predisposing syndrome Benign
RCV000383485.2 APC-Associated Polyposis Disorders Benign
RCV000755212.4 Familial adenomatous polyposis 1 Benign

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 178416 G=0.385347 A=0.614653
European Sub 150198 G=0.387642 A=0.612358
African Sub 7306 G=0.4698 A=0.5302
African Others Sub 250 G=0.476 A=0.524
African American Sub 7056 G=0.4695 A=0.5305
Asian Sub 686 G=0.182 A=0.818
East Asian Sub 524 G=0.179 A=0.821
Other Asian Sub 162 G=0.191 A=0.809
Latin American 1 Sub 1106 G=0.3698 A=0.6302
Latin American 2 Sub 6340 G=0.2686 A=0.7314
South Asian Sub 184 G=0.293 A=0.707
Other Sub 12596 G=0.38155 A=0.61845


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.390215 A=0.609785
gnomAD - Exomes Global Study-wide 250358 G=0.350274 A=0.649726
gnomAD - Exomes European Sub 134740 G=0.390782 A=0.609218
gnomAD - Exomes Asian Sub 48998 G=0.24636 A=0.75364
gnomAD - Exomes American Sub 34538 G=0.26611 A=0.73389
gnomAD - Exomes African Sub 15938 G=0.46719 A=0.53281
gnomAD - Exomes Ashkenazi Jewish Sub 10056 G=0.41846 A=0.58154
gnomAD - Exomes Other Sub 6088 G=0.3489 A=0.6511
Allele Frequency Aggregator Total Global 178416 G=0.385347 A=0.614653
Allele Frequency Aggregator European Sub 150198 G=0.387642 A=0.612358
Allele Frequency Aggregator Other Sub 12596 G=0.38155 A=0.61845
Allele Frequency Aggregator African Sub 7306 G=0.4698 A=0.5302
Allele Frequency Aggregator Latin American 2 Sub 6340 G=0.2686 A=0.7314
Allele Frequency Aggregator Latin American 1 Sub 1106 G=0.3698 A=0.6302
Allele Frequency Aggregator Asian Sub 686 G=0.182 A=0.818
Allele Frequency Aggregator South Asian Sub 184 G=0.293 A=0.707
gnomAD - Genomes Global Study-wide 139886 G=0.408232 A=0.591768
gnomAD - Genomes European Sub 75770 G=0.39879 A=0.60121
gnomAD - Genomes African Sub 41878 G=0.46597 A=0.53403
gnomAD - Genomes American Sub 13630 G=0.33243 A=0.66757
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.4305 A=0.5695
gnomAD - Genomes East Asian Sub 3132 G=0.1900 A=0.8100
gnomAD - Genomes Other Sub 2152 G=0.3806 A=0.6194
ExAC Global Study-wide 121054 G=0.351430 A=0.648570
ExAC Europe Sub 73296 G=0.38804 A=0.61196
ExAC Asian Sub 25156 G=0.24563 A=0.75437
ExAC American Sub 11566 G=0.25143 A=0.74857
ExAC African Sub 10128 G=0.46297 A=0.53703
ExAC Other Sub 908 G=0.357 A=0.643
8.3KJPN JAPANESE Study-wide 16760 G=0.14230 A=0.85770
GO Exome Sequencing Project Global Study-wide 13002 G=0.41378 A=0.58622
GO Exome Sequencing Project European American Sub 8600 G=0.3833 A=0.6167
GO Exome Sequencing Project African American Sub 4402 G=0.4734 A=0.5266
1000Genomes Global Study-wide 5008 G=0.3345 A=0.6655
1000Genomes African Sub 1322 G=0.4826 A=0.5174
1000Genomes East Asian Sub 1008 G=0.1835 A=0.8165
1000Genomes Europe Sub 1006 G=0.4006 A=0.5994
1000Genomes South Asian Sub 978 G=0.258 A=0.742
1000Genomes American Sub 694 G=0.284 A=0.716
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4310 A=0.5690
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3713 A=0.6287
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3827 A=0.6173
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1553 A=0.8447
HapMap Global Study-wide 1890 G=0.3593 A=0.6407
HapMap American Sub 770 G=0.300 A=0.700
HapMap African Sub 690 G=0.467 A=0.533
HapMap Asian Sub 254 G=0.185 A=0.815
HapMap Europe Sub 176 G=0.449 A=0.551
Korean Genome Project KOREAN Study-wide 1832 G=0.1441 A=0.8559
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.361 A=0.639
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.213 A=0.787
Northern Sweden ACPOP Study-wide 600 G=0.403 A=0.597
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.404 A=0.596
SGDP_PRJ Global Study-wide 506 G=0.215 A=0.785
FINRISK Finnish from FINRISK project Study-wide 304 G=0.421 A=0.579
Qatari Global Study-wide 216 G=0.324 A=0.676
Siberian Global Study-wide 48 G=0.23 A=0.77
The Danish reference pan genome Danish Study-wide 40 G=0.25 A=0.75
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p13 chr 5 NC_000005.10:g.112840073= NC_000005.10:g.112840073G>A
GRCh37.p13 chr 5 NC_000005.9:g.112175770= NC_000005.9:g.112175770G>A
APC RefSeqGene (LRG_130) NG_008481.4:g.152553= NG_008481.4:g.152553G>A
APC transcript variant 3 NM_000038.6:c.4479= NM_000038.6:c.4479G>A
APC transcript variant 3 NM_000038.5:c.4479= NM_000038.5:c.4479G>A
APC transcript variant 2 NM_001127510.3:c.4479= NM_001127510.3:c.4479G>A
APC transcript variant 2 NM_001127510.2:c.4479= NM_001127510.2:c.4479G>A
APC transcript variant 1 NM_001127511.3:c.4425= NM_001127511.3:c.4425G>A
APC transcript variant 1 NM_001127511.2:c.4425= NM_001127511.2:c.4425G>A
APC transcript variant 4 NM_001354895.2:c.4479= NM_001354895.2:c.4479G>A
APC transcript variant 4 NM_001354895.1:c.4479= NM_001354895.1:c.4479G>A
APC transcript variant 6 NM_001354897.2:c.4509= NM_001354897.2:c.4509G>A
APC transcript variant 6 NM_001354897.1:c.4509= NM_001354897.1:c.4509G>A
APC transcript variant 15 NM_001354906.2:c.3630= NM_001354906.2:c.3630G>A
APC transcript variant 15 NM_001354906.1:c.3630= NM_001354906.1:c.3630G>A
APC transcript variant 5 NM_001354896.2:c.4533= NM_001354896.2:c.4533G>A
APC transcript variant 5 NM_001354896.1:c.4533= NM_001354896.1:c.4533G>A
APC transcript variant 7 NM_001354898.2:c.4404= NM_001354898.2:c.4404G>A
APC transcript variant 7 NM_001354898.1:c.4404= NM_001354898.1:c.4404G>A
APC transcript variant 8 NM_001354899.2:c.4395= NM_001354899.2:c.4395G>A
APC transcript variant 8 NM_001354899.1:c.4395= NM_001354899.1:c.4395G>A
APC transcript variant 9 NM_001354900.2:c.4356= NM_001354900.2:c.4356G>A
APC transcript variant 9 NM_001354900.1:c.4356= NM_001354900.1:c.4356G>A
APC transcript variant 11 NM_001354902.2:c.4206= NM_001354902.2:c.4206G>A
APC transcript variant 11 NM_001354902.1:c.4206= NM_001354902.1:c.4206G>A
APC transcript variant 10 NM_001354901.2:c.4302= NM_001354901.2:c.4302G>A
APC transcript variant 10 NM_001354901.1:c.4302= NM_001354901.1:c.4302G>A
APC transcript variant 12 NM_001354903.2:c.4176= NM_001354903.2:c.4176G>A
APC transcript variant 12 NM_001354903.1:c.4176= NM_001354903.1:c.4176G>A
APC transcript variant 13 NM_001354904.2:c.4101= NM_001354904.2:c.4101G>A
APC transcript variant 13 NM_001354904.1:c.4101= NM_001354904.1:c.4101G>A
APC transcript variant 14 NM_001354905.2:c.3999= NM_001354905.2:c.3999G>A
APC transcript variant 14 NM_001354905.1:c.3999= NM_001354905.1:c.3999G>A
adenomatous polyposis coli protein isoform b NP_000029.2:p.Thr1493= NP_000029.2:p.Thr1493=
adenomatous polyposis coli protein isoform b NP_001120982.1:p.Thr1493= NP_001120982.1:p.Thr1493=
adenomatous polyposis coli protein isoform a NP_001120983.2:p.Thr1475= NP_001120983.2:p.Thr1475=
adenomatous polyposis coli protein isoform b NP_001341824.1:p.Thr1493= NP_001341824.1:p.Thr1493=
adenomatous polyposis coli protein isoform d NP_001341826.1:p.Thr1503= NP_001341826.1:p.Thr1503=
adenomatous polyposis coli protein isoform m NP_001341835.1:p.Thr1210= NP_001341835.1:p.Thr1210=
adenomatous polyposis coli protein isoform c NP_001341825.1:p.Thr1511= NP_001341825.1:p.Thr1511=
adenomatous polyposis coli protein isoform e NP_001341827.1:p.Thr1468= NP_001341827.1:p.Thr1468=
adenomatous polyposis coli protein isoform f NP_001341828.1:p.Thr1465= NP_001341828.1:p.Thr1465=
adenomatous polyposis coli protein isoform g NP_001341829.1:p.Thr1452= NP_001341829.1:p.Thr1452=
adenomatous polyposis coli protein isoform i NP_001341831.1:p.Thr1402= NP_001341831.1:p.Thr1402=
adenomatous polyposis coli protein isoform h NP_001341830.1:p.Thr1434= NP_001341830.1:p.Thr1434=
adenomatous polyposis coli protein isoform j NP_001341832.1:p.Thr1392= NP_001341832.1:p.Thr1392=
adenomatous polyposis coli protein isoform k NP_001341833.1:p.Thr1367= NP_001341833.1:p.Thr1367=
adenomatous polyposis coli protein isoform l NP_001341834.1:p.Thr1333= NP_001341834.1:p.Thr1333=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

133 SubSNP, 23 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss46504 May 08, 2000 (76)
2 SC_JCM ss632134 Jul 16, 2000 (80)
3 KWOK ss1206509 Oct 04, 2000 (86)
4 LEE ss1522889 Oct 04, 2000 (86)
5 WICVAR ss3177071 Aug 15, 2001 (98)
6 SC_JCM ss3569290 Sep 28, 2001 (100)
7 SC_JCM ss4105853 Nov 05, 2001 (101)
8 YUSUKE ss5009114 Aug 28, 2002 (108)
9 SNP500CANCER ss6903660 Jul 02, 2003 (116)
10 BCM_SSAHASNP ss10257434 Jul 11, 2003 (116)
11 CSHL-HAPMAP ss20232432 Feb 27, 2004 (120)
12 CDFD ss20423153 Apr 05, 2004 (121)
13 PERLEGEN ss23417632 Sep 20, 2004 (123)
14 APPLERA_GI ss48428732 Mar 14, 2006 (126)
15 ILLUMINA ss75139347 Dec 07, 2007 (129)
16 HGSV ss79063231 Dec 07, 2007 (129)
17 HGSV ss83408547 Dec 15, 2007 (130)
18 BCMHGSC_JDW ss93210224 Mar 24, 2008 (129)
19 BGI ss105944773 Feb 06, 2009 (130)
20 1000GENOMES ss109319112 Jan 23, 2009 (130)
21 1000GENOMES ss112368915 Jan 25, 2009 (130)
22 ILLUMINA-UK ss116761774 Feb 14, 2009 (130)
23 KRIBB_YJKIM ss119340886 Dec 01, 2009 (131)
24 ZCNI_SBP ss119992008 Dec 01, 2009 (131)
25 ZCNI_SBP ss119994559 Dec 01, 2009 (131)
26 ENSEMBL ss142645175 Dec 01, 2009 (131)
27 ENSEMBL ss143360143 Dec 01, 2009 (131)
28 GMI ss155892669 Dec 01, 2009 (131)
29 SEATTLESEQ ss159709861 Dec 01, 2009 (131)
30 ILLUMINA ss160660600 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss162551703 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss165711098 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss166945747 Jul 04, 2010 (132)
34 ILLUMINA ss173686513 Jul 04, 2010 (132)
35 BUSHMAN ss200692246 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss206812299 Jul 04, 2010 (132)
37 1000GENOMES ss221886306 Jul 14, 2010 (132)
38 1000GENOMES ss233093440 Jul 14, 2010 (132)
39 1000GENOMES ss240229081 Jul 15, 2010 (132)
40 BL ss253715914 May 09, 2011 (134)
41 GMI ss278431322 May 04, 2012 (137)
42 GMI ss285241221 Apr 25, 2013 (138)
43 PJP ss293434959 May 09, 2011 (134)
44 NHLBI-ESP ss342186082 May 09, 2011 (134)
45 ILLUMINA ss480890198 May 04, 2012 (137)
46 ILLUMINA ss480909000 May 04, 2012 (137)
47 ILLUMINA ss481857080 Sep 08, 2015 (146)
48 ILLUMINA ss485240164 May 04, 2012 (137)
49 1000GENOMES ss490908261 May 04, 2012 (137)
50 CLINSEQ_SNP ss491870799 May 04, 2012 (137)
51 ILLUMINA ss537214745 Sep 08, 2015 (146)
52 TISHKOFF ss558625126 Apr 25, 2013 (138)
53 SSMP ss652515344 Apr 25, 2013 (138)
54 ILLUMINA ss778530117 Sep 08, 2015 (146)
55 ILLUMINA ss783066006 Aug 21, 2014 (142)
56 ILLUMINA ss784023941 Sep 08, 2015 (146)
57 ILLUMINA ss832324050 Apr 01, 2015 (144)
58 ILLUMINA ss833986639 Sep 08, 2015 (146)
59 EVA-GONL ss981972852 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1067470165 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1072931239 Aug 21, 2014 (142)
62 1000GENOMES ss1316648353 Aug 21, 2014 (142)
63 DDI ss1430460066 Apr 01, 2015 (144)
64 EVA_GENOME_DK ss1581292011 Apr 01, 2015 (144)
65 EVA_FINRISK ss1584040188 Apr 01, 2015 (144)
66 EVA_DECODE ss1591494999 Apr 01, 2015 (144)
67 EVA_UK10K_ALSPAC ss1613707435 Apr 01, 2015 (144)
68 EVA_UK10K_TWINSUK ss1656701468 Apr 01, 2015 (144)
69 EVA_EXAC ss1687906910 Apr 01, 2015 (144)
70 EVA_MGP ss1711094557 Apr 01, 2015 (144)
71 EVA_SVP ss1712790313 Apr 01, 2015 (144)
72 ILLUMINA ss1752542557 Sep 08, 2015 (146)
73 HAMMER_LAB ss1804018398 Sep 08, 2015 (146)
74 WEILL_CORNELL_DGM ss1925227143 Feb 12, 2016 (147)
75 GENOMED ss1966658506 Feb 12, 2016 (147)
76 JJLAB ss2023219935 Sep 14, 2016 (149)
77 USC_VALOUEV ss2151376090 Dec 20, 2016 (150)
78 HUMAN_LONGEVITY ss2276957138 Dec 20, 2016 (150)
79 TOPMED ss2445246174 Dec 20, 2016 (150)
80 SYSTEMSBIOZJU ss2626100853 Nov 08, 2017 (151)
81 ILLUMINA ss2634323235 Nov 08, 2017 (151)
82 ILLUMINA ss2635147920 Nov 08, 2017 (151)
83 GRF ss2706934495 Nov 08, 2017 (151)
84 GNOMAD ss2735155656 Nov 08, 2017 (151)
85 GNOMAD ss2747430866 Nov 08, 2017 (151)
86 GNOMAD ss2829156958 Nov 08, 2017 (151)
87 SWEGEN ss2997566156 Nov 08, 2017 (151)
88 EVA_SAMSUNG_MC ss3023061341 Nov 08, 2017 (151)
89 BIOINF_KMB_FNS_UNIBA ss3025392643 Nov 08, 2017 (151)
90 CSHL ss3346562617 Nov 08, 2017 (151)
91 TOPMED ss3474950329 Nov 08, 2017 (151)
92 ILLUMINA ss3629312406 Oct 12, 2018 (152)
93 ILLUMINA ss3632248110 Oct 12, 2018 (152)
94 ILLUMINA ss3633385643 Oct 12, 2018 (152)
95 ILLUMINA ss3634106640 Oct 12, 2018 (152)
96 ILLUMINA ss3635016463 Oct 12, 2018 (152)
97 ILLUMINA ss3635788461 Oct 12, 2018 (152)
98 ILLUMINA ss3636729387 Oct 12, 2018 (152)
99 ILLUMINA ss3637541097 Oct 12, 2018 (152)
100 ILLUMINA ss3638573274 Oct 12, 2018 (152)
101 ILLUMINA ss3640723757 Oct 12, 2018 (152)
102 ILLUMINA ss3643517835 Oct 12, 2018 (152)
103 OMUKHERJEE_ADBS ss3646323333 Oct 12, 2018 (152)
104 URBANLAB ss3648141162 Oct 12, 2018 (152)
105 EGCUT_WGS ss3665466752 Jul 13, 2019 (153)
106 EVA_DECODE ss3715429944 Jul 13, 2019 (153)
107 ACPOP ss3732693912 Jul 13, 2019 (153)
108 ILLUMINA ss3745316677 Jul 13, 2019 (153)
109 EVA ss3763890427 Jul 13, 2019 (153)
110 ILLUMINA ss3772810723 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3807062248 Jul 13, 2019 (153)
112 EVA ss3824102818 Apr 26, 2020 (154)
113 EVA ss3825522593 Apr 26, 2020 (154)
114 EVA ss3825538724 Apr 26, 2020 (154)
115 EVA ss3825677803 Apr 26, 2020 (154)
116 EVA ss3829434323 Apr 26, 2020 (154)
117 EVA ss3838192774 Apr 26, 2020 (154)
118 EVA ss3843634753 Apr 26, 2020 (154)
119 SGDP_PRJ ss3862680507 Apr 26, 2020 (154)
120 KRGDB ss3909296277 Apr 26, 2020 (154)
121 KOGIC ss3957396285 Apr 26, 2020 (154)
122 FSA-LAB ss3984313022 Apr 26, 2021 (155)
123 FSA-LAB ss3984313023 Apr 26, 2021 (155)
124 EVA ss3986031159 Apr 26, 2021 (155)
125 EVA ss3986315310 Apr 26, 2021 (155)
126 EVA ss4017224674 Apr 26, 2021 (155)
127 TOPMED ss4673759500 Apr 26, 2021 (155)
128 TOMMO_GENOMICS ss5173515460 Apr 26, 2021 (155)
129 CPQ_GEN_INCA ss5236854937 Apr 26, 2021 (155)
130 CPQ_GEN_INCA ss5236860380 Apr 26, 2021 (155)
131 CPQ_GEN_INCA ss5236860381 Apr 26, 2021 (155)
132 CPQ_GEN_INCA ss5236860382 Apr 26, 2021 (155)
133 EVA ss5237014530 Apr 26, 2021 (155)
134 1000Genomes NC_000005.9 - 112175770 Oct 12, 2018 (152)
135 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 112175770 Oct 12, 2018 (152)
136 Genetic variation in the Estonian population NC_000005.9 - 112175770 Oct 12, 2018 (152)
137 ExAC NC_000005.9 - 112175770 Oct 12, 2018 (152)
138 FINRISK NC_000005.9 - 112175770 Apr 26, 2020 (154)
139 The Danish reference pan genome NC_000005.9 - 112175770 Apr 26, 2020 (154)
140 gnomAD - Genomes NC_000005.10 - 112840073 Apr 26, 2021 (155)
141 gnomAD - Exomes NC_000005.9 - 112175770 Jul 13, 2019 (153)
142 GO Exome Sequencing Project NC_000005.9 - 112175770 Oct 12, 2018 (152)
143 Genome of the Netherlands Release 5 NC_000005.9 - 112175770 Apr 26, 2020 (154)
144 HapMap NC_000005.10 - 112840073 Apr 26, 2020 (154)
145 KOREAN population from KRGDB NC_000005.9 - 112175770 Apr 26, 2020 (154)
146 Korean Genome Project NC_000005.10 - 112840073 Apr 26, 2020 (154)
147 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 112175770 Apr 26, 2020 (154)
148 Northern Sweden NC_000005.9 - 112175770 Jul 13, 2019 (153)
149 Qatari NC_000005.9 - 112175770 Apr 26, 2020 (154)
150 SGDP_PRJ NC_000005.9 - 112175770 Apr 26, 2020 (154)
151 Siberian NC_000005.9 - 112175770 Apr 26, 2020 (154)
152 8.3KJPN NC_000005.9 - 112175770 Apr 26, 2021 (155)
153 TopMed NC_000005.10 - 112840073 Apr 26, 2021 (155)
154 UK 10K study - Twins NC_000005.9 - 112175770 Oct 12, 2018 (152)
155 A Vietnamese Genetic Variation Database NC_000005.9 - 112175770 Jul 13, 2019 (153)
156 ALFA NC_000005.10 - 112840073 Apr 26, 2021 (155)
157 ClinVar RCV000035071.12 Apr 26, 2020 (154)
158 ClinVar RCV000074234.1 Oct 12, 2018 (152)
159 ClinVar RCV000162372.2 Oct 12, 2018 (152)
160 ClinVar RCV000383485.2 Apr 26, 2021 (155)
161 ClinVar RCV000755212.4 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3822655 Oct 08, 2002 (108)
rs60389937 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss79063231, ss83408547, ss93210224, ss109319112, ss112368915, ss116761774, ss162551703, ss165711098, ss166945747, ss200692246, ss206812299, ss253715914, ss278431322, ss285241221, ss293434959, ss480890198, ss491870799, ss1591494999, ss1712790313, ss2635147920, ss3643517835 NC_000005.8:112203668:G:A NC_000005.10:112840072:G:A (self)
28307048, 15739848, 11205000, 7906654, 36649, 7456950, 4276515, 560934, 6995289, 16473671, 210317, 5978777, 7269073, 14697487, 3892444, 31484767, 15739848, 3492172, ss221886306, ss233093440, ss240229081, ss342186082, ss480909000, ss481857080, ss485240164, ss490908261, ss537214745, ss558625126, ss652515344, ss778530117, ss783066006, ss784023941, ss832324050, ss833986639, ss981972852, ss1067470165, ss1072931239, ss1316648353, ss1430460066, ss1581292011, ss1584040188, ss1613707435, ss1656701468, ss1687906910, ss1711094557, ss1752542557, ss1804018398, ss1925227143, ss1966658506, ss2023219935, ss2151376090, ss2445246174, ss2626100853, ss2634323235, ss2706934495, ss2735155656, ss2747430866, ss2829156958, ss2997566156, ss3023061341, ss3346562617, ss3629312406, ss3632248110, ss3633385643, ss3634106640, ss3635016463, ss3635788461, ss3636729387, ss3637541097, ss3638573274, ss3640723757, ss3646323333, ss3665466752, ss3732693912, ss3745316677, ss3763890427, ss3772810723, ss3824102818, ss3825522593, ss3825538724, ss3825677803, ss3829434323, ss3838192774, ss3862680507, ss3909296277, ss3984313022, ss3984313023, ss3986031159, ss3986315310, ss4017224674, ss5173515460, ss5236854937, ss5236860380, ss5236860381, ss5236860382 NC_000005.9:112175769:G:A NC_000005.10:112840072:G:A (self)
RCV000035071.12, RCV000074234.1, RCV000162372.2, RCV000383485.2, RCV000755212.4, 200249525, 2941212, 13774286, 319610267, 511137057, 347685196, ss119992008, ss119994559, ss2276957138, ss3025392643, ss3474950329, ss3648141162, ss3715429944, ss3807062248, ss3843634753, ss3957396285, ss4673759500, ss5237014530 NC_000005.10:112840072:G:A NC_000005.10:112840072:G:A (self)
ss10257434 NT_034772.4:14590789:G:A NC_000005.10:112840072:G:A (self)
ss20232432 NT_034772.5:14590782:G:A NC_000005.10:112840072:G:A (self)
ss46504, ss632134, ss1206509, ss1522889, ss3177071, ss3569290, ss4105853, ss5009114, ss6903660, ss20423153, ss23417632, ss48428732, ss75139347, ss105944773, ss119340886, ss142645175, ss143360143, ss155892669, ss159709861, ss160660600, ss173686513 NT_034772.6:20489641:G:A NC_000005.10:112840072:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

14 citations for rs41115
PMID Title Author Year Journal
14724163 Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. Crabtree MD et al. 2004 Gut
16569251 Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan. Chen SP et al. 2006 BMC cancer
19777185 Association analysis of Wnt pathway genes on prostate-specific antigen recurrence after radical prostatectomy. Huang SP et al. 2010 Annals of surgical oncology
20333795 APC gene mutations in Chinese familial adenomatous polyposis patients. Sheng JQ et al. 2010 World journal of gastroenterology
20510605 Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk. Wong HL et al. 2010 European journal of cancer (Oxford, England
20844743 Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort. Fernández-Rozadilla C et al. 2010 PloS one
21995949 Increased variance in germline allele-specific expression of APC associates with colorectal cancer. Curia MC et al. 2012 Gastroenterology
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
23940558 Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. Shao J et al. 2013 PloS one
24861525 Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer. Palacio-Rúa KA et al. 2014 Revista de gastroenterologia de Mexico
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
27028212 Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer. Chang YS et al. 2016 Cancer cell international
27087319 Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Li J et al. 2016 American journal of human genetics
27217144 Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. Yamaguchi K et al. 2016 Scientific reports
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad