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dbSNP Short Genetic Variations

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.

rs26279

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr5:80873118 (GRCh38.p12) 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=0.27002 (66417/245968, GnomAD)
G=0.29826 (37452/125568, TOPMED)
G=0.26954 (32706/121342, ExAC) (+ 6 more)
G=0.2917 (9017/30912, GnomAD)
G=0.3053 (3971/13006, GO-ESP)
G=0.280 (1401/5008, 1000G)
G=0.265 (1185/4480, Estonian)
G=0.284 (1095/3854, ALSPAC)
G=0.281 (1041/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MSH3 : Missense Variant
Publications
17 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.p12 chr 5 NC_000005.10:g.80873118G>A
GRCh37.p13 chr 5 NC_000005.9:g.80168937G>A
MSH3 RefSeqGene NG_016607.1:g.223644G>A
Gene: MSH3, mutS homolog 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MSH3 transcript NM_002439.4:c.3133G>A A [GCA] > T [ACA] Coding Sequence Variant
DNA mismatch repair protein Msh3 NP_002430.3:p.Ala1045Thr A (Ala) > T (Thr) Missense 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.

Not Reported in ClinVar
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
gnomAD - Exomes Global Study-wide 245968 G=0.27002 A=0.72998
gnomAD - Exomes European Sub 133814 G=0.28266 A=0.71734
gnomAD - Exomes Asian Sub 48000 G=0.2239 A=0.7761
gnomAD - Exomes American Sub 33536 G=0.2422 A=0.7578
gnomAD - Exomes African Sub 15302 G=0.3347 A=0.6653
gnomAD - Exomes Ashkenazi Jewish Sub 9844 G=0.293 A=0.707
gnomAD - Exomes Other Sub 5472 G=0.314 A=0.686
TopMed Global Study-wide 125568 G=0.29826 A=0.70174
ExAC Global Study-wide 121342 G=0.26954 A=0.73046
ExAC Europe Sub 73334 G=0.2822 A=0.7178
ExAC Asian Sub 25152 G=0.2224 A=0.7776
ExAC American Sub 11544 G=0.2399 A=0.7601
ExAC African Sub 10404 G=0.3267 A=0.6733
ExAC Other Sub 908 G=0.27 A=0.73
gnomAD - Genomes Global Study-wide 30912 G=0.2917 A=0.7083
gnomAD - Genomes European Sub 18478 G=0.2774 A=0.7226
gnomAD - Genomes African Sub 8704 G=0.334 A=0.666
gnomAD - Genomes East Asian Sub 1614 G=0.258 A=0.742
gnomAD - Genomes Other Sub 978 G=0.28 A=0.72
gnomAD - Genomes American Sub 836 G=0.25 A=0.75
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.30 A=0.70
GO Exome Sequencing Project Global Study-wide 13006 G=0.3053 A=0.6947
GO Exome Sequencing Project European American Sub 8600 G=0.291 A=0.709
GO Exome Sequencing Project African American Sub 4406 G=0.334 A=0.666
1000Genomes Global Study-wide 5008 G=0.280 A=0.720
1000Genomes African Sub 1322 G=0.345 A=0.655
1000Genomes East Asian Sub 1008 G=0.247 A=0.753
1000Genomes Europe Sub 1006 G=0.277 A=0.723
1000Genomes South Asian Sub 978 G=0.21 A=0.79
1000Genomes American Sub 694 G=0.31 A=0.69
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.265 A=0.735
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.284 A=0.716
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.281 A=0.719
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 Note
GRCh38.p12 chr 5 NC_000005.10:g.80873118G= NC_000005.10:g.80873118G>A
GRCh37.p13 chr 5 NC_000005.9:g.80168937G= NC_000005.9:g.80168937G>A
MSH3 RefSeqGene NG_016607.1:g.223644G= NG_016607.1:g.223644G>A
MSH3 transcript NM_002439.4:c.3133G= NM_002439.4:c.3133G>A
DNA mismatch repair protein Msh3 NP_002430.3:p.Ala1045= NP_002430.3:p.Ala1045Thr
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#.

139 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss35174 May 08, 2000 (76)
2 KWOK ss35223 May 08, 2000 (76)
3 KWOK ss1250665 Oct 04, 2000 (86)
4 KWOK ss1251306 Oct 04, 2000 (86)
5 KWOK ss1836074 Oct 18, 2000 (87)
6 KWOK ss1836174 Oct 18, 2000 (87)
7 SC_JCM ss2464679 Nov 09, 2000 (92)
8 YUSUKE ss3253889 Sep 28, 2001 (100)
9 EGP_SNPS ss8485711 Apr 21, 2003 (114)
10 BCM_SSAHASNP ss10256882 Jul 11, 2003 (116)
11 WI_SSAHASNP ss11757959 Jul 11, 2003 (116)
12 PERLEGEN ss24420398 Sep 20, 2004 (123)
13 ABI ss44643212 Mar 13, 2006 (126)
14 SNP500CANCER ss48295705 Mar 13, 2006 (126)
15 APPLERA_GI ss48427838 Mar 13, 2006 (126)
16 ILLUMINA ss65727076 Oct 14, 2006 (127)
17 ILLUMINA ss66582745 Nov 29, 2006 (127)
18 EGP_SNPS ss66859496 Nov 29, 2006 (127)
19 ILLUMINA ss67264535 Nov 29, 2006 (127)
20 ILLUMINA ss67664213 Nov 29, 2006 (127)
21 PERLEGEN ss68940227 May 17, 2007 (127)
22 ILLUMINA ss70742927 May 25, 2008 (130)
23 ILLUMINA ss71314169 May 17, 2007 (127)
24 AFFY ss74808999 Aug 16, 2007 (128)
25 ILLUMINA ss74940648 Dec 06, 2007 (129)
26 CGM_KYOTO ss76862440 Dec 06, 2007 (129)
27 ILLUMINA ss79141511 Dec 15, 2007 (130)
28 KRIBB_YJKIM ss83352688 Dec 15, 2007 (130)
29 HGSV ss84306107 Dec 15, 2007 (130)
30 CANCER-GENOME ss86343033 Mar 23, 2008 (129)
31 BCMHGSC_JDW ss93150276 Mar 24, 2008 (129)
32 BGI ss105933563 Feb 05, 2009 (130)
33 1000GENOMES ss109163083 Jan 23, 2009 (130)
34 1000GENOMES ss112082811 Jan 25, 2009 (130)
35 ILLUMINA ss122073243 Dec 01, 2009 (131)
36 ENSEMBL ss143238449 Dec 01, 2009 (131)
37 ILLUMINA ss154224706 Dec 01, 2009 (131)
38 GMI ss155650459 Dec 01, 2009 (131)
39 ILLUMINA ss159401211 Dec 01, 2009 (131)
40 SEATTLESEQ ss159709668 Dec 01, 2009 (131)
41 ILLUMINA ss160564937 Dec 01, 2009 (131)
42 COMPLETE_GENOMICS ss162402675 Jul 04, 2010 (132)
43 COMPLETE_GENOMICS ss165339290 Jul 04, 2010 (132)
44 COMPLETE_GENOMICS ss166736567 Jul 04, 2010 (132)
45 ILLUMINA ss171324797 Jul 04, 2010 (132)
46 ILLUMINA ss173412484 Jul 04, 2010 (132)
47 BUSHMAN ss200449861 Jul 04, 2010 (132)
48 1000GENOMES ss221768620 Jul 14, 2010 (132)
49 1000GENOMES ss233010436 Jul 14, 2010 (132)
50 1000GENOMES ss240168702 Jul 15, 2010 (132)
51 BL ss253572998 May 09, 2011 (134)
52 GMI ss278355177 May 04, 2012 (137)
53 GMI ss285205567 Apr 25, 2013 (138)
54 PJP ss293389352 May 09, 2011 (134)
55 NHLBI-ESP ss342184081 May 09, 2011 (134)
56 ILLUMINA ss480621309 May 04, 2012 (137)
57 ILLUMINA ss480635996 May 04, 2012 (137)
58 ILLUMINA ss481473953 Sep 08, 2015 (146)
59 ILLUMINA ss485105770 May 04, 2012 (137)
60 1000GENOMES ss490906259 May 04, 2012 (137)
61 EXOME_CHIP ss491368303 May 04, 2012 (137)
62 CLINSEQ_SNP ss491869254 May 04, 2012 (137)
63 ILLUMINA ss537110590 Sep 08, 2015 (146)
64 TISHKOFF ss558498644 Apr 25, 2013 (138)
65 SSMP ss652371161 Apr 25, 2013 (138)
66 ILLUMINA ss778874584 Sep 08, 2015 (146)
67 ILLUMINA ss780838454 Sep 08, 2015 (146)
68 ILLUMINA ss782999170 Sep 08, 2015 (146)
69 ILLUMINA ss783521652 Sep 08, 2015 (146)
70 ILLUMINA ss783959713 Sep 08, 2015 (146)
71 ILLUMINA ss825472029 Jul 19, 2016 (147)
72 ILLUMINA ss832256214 Sep 08, 2015 (146)
73 ILLUMINA ss834335528 Sep 08, 2015 (146)
74 JMKIDD_LAB ss974456335 Aug 21, 2014 (142)
75 EVA-GONL ss981741514 Aug 21, 2014 (142)
76 JMKIDD_LAB ss1067469337 Aug 21, 2014 (142)
77 JMKIDD_LAB ss1072759985 Aug 21, 2014 (142)
78 1000GENOMES ss1315762242 Aug 21, 2014 (142)
79 HAMMER_LAB ss1397417927 Sep 08, 2015 (146)
80 DDI ss1430395951 Apr 01, 2015 (144)
81 EVA_GENOME_DK ss1581205706 Apr 01, 2015 (144)
82 EVA_FINRISK ss1584039626 Apr 01, 2015 (144)
83 EVA_DECODE ss1591260303 Apr 01, 2015 (144)
84 EVA_UK10K_ALSPAC ss1613239833 Apr 01, 2015 (144)
85 EVA_UK10K_TWINSUK ss1656233866 Apr 01, 2015 (144)
86 EVA_EXAC ss1687869285 Apr 01, 2015 (144)
87 EVA_MGP ss1711091097 Apr 01, 2015 (144)
88 EVA_SVP ss1712776542 Apr 01, 2015 (144)
89 ILLUMINA ss1752586651 Sep 08, 2015 (146)
90 ILLUMINA ss1752586652 Sep 08, 2015 (146)
91 HAMMER_LAB ss1803744040 Sep 08, 2015 (146)
92 ILLUMINA ss1917791447 Feb 12, 2016 (147)
93 WEILL_CORNELL_DGM ss1924997129 Feb 12, 2016 (147)
94 ILLUMINA ss1946148212 Feb 12, 2016 (147)
95 ILLUMINA ss1946148213 Feb 12, 2016 (147)
96 ILLUMINA ss1958799278 Feb 12, 2016 (147)
97 ILLUMINA ss1958799279 Feb 12, 2016 (147)
98 GENOMED ss1970127432 Jul 19, 2016 (147)
99 JJLAB ss2023105237 Sep 14, 2016 (149)
100 USC_VALOUEV ss2151261215 Dec 20, 2016 (150)
101 HUMAN_LONGEVITY ss2275077818 Dec 20, 2016 (150)
102 TOPMED ss2443314700 Dec 20, 2016 (150)
103 SYSTEMSBIOZJU ss2626049914 Nov 08, 2017 (151)
104 ILLUMINA ss2634299655 Nov 08, 2017 (151)
105 ILLUMINA ss2635146149 Nov 08, 2017 (151)
106 GRF ss2706812545 Nov 08, 2017 (151)
107 ILLUMINA ss2711041984 Nov 08, 2017 (151)
108 GNOMAD ss2735096055 Nov 08, 2017 (151)
109 GNOMAD ss2747413395 Nov 08, 2017 (151)
110 GNOMAD ss2826560749 Nov 08, 2017 (151)
111 AFFY ss2985325466 Nov 08, 2017 (151)
112 AFFY ss2985957180 Nov 08, 2017 (151)
113 SWEGEN ss2997210218 Nov 08, 2017 (151)
114 ILLUMINA ss3022502258 Nov 08, 2017 (151)
115 BIOINF_KMB_FNS_UNIBA ss3025337684 Nov 08, 2017 (151)
116 CSHL ss3346464387 Nov 08, 2017 (151)
117 TOPMED ss3468961071 Nov 08, 2017 (151)
118 ILLUMINA ss3625876554 Oct 12, 2018 (152)
119 ILLUMINA ss3629270383 Oct 12, 2018 (152)
120 ILLUMINA ss3629270384 Oct 12, 2018 (152)
121 ILLUMINA ss3632225634 Oct 12, 2018 (152)
122 ILLUMINA ss3633379658 Oct 12, 2018 (152)
123 ILLUMINA ss3634100450 Oct 12, 2018 (152)
124 ILLUMINA ss3635009077 Oct 12, 2018 (152)
125 ILLUMINA ss3635009078 Oct 12, 2018 (152)
126 ILLUMINA ss3635782383 Oct 12, 2018 (152)
127 ILLUMINA ss3636721070 Oct 12, 2018 (152)
128 ILLUMINA ss3637535009 Oct 12, 2018 (152)
129 ILLUMINA ss3638562862 Oct 12, 2018 (152)
130 ILLUMINA ss3639284082 Oct 12, 2018 (152)
131 ILLUMINA ss3639665575 Oct 12, 2018 (152)
132 ILLUMINA ss3640716370 Oct 12, 2018 (152)
133 ILLUMINA ss3640716371 Oct 12, 2018 (152)
134 ILLUMINA ss3643508149 Oct 12, 2018 (152)
135 ILLUMINA ss3644881171 Oct 12, 2018 (152)
136 ILLUMINA ss3644881172 Oct 12, 2018 (152)
137 OMUKHERJEE_ADBS ss3646321912 Oct 12, 2018 (152)
138 ILLUMINA ss3652999156 Oct 12, 2018 (152)
139 ILLUMINA ss3654099292 Oct 12, 2018 (152)
140 1000Genomes NC_000005.9 - 80168937 Oct 12, 2018 (152)
141 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 80168937 Oct 12, 2018 (152)
142 Genetic variation in the Estonian population NC_000005.9 - 80168937 Oct 12, 2018 (152)
143 ExAC NC_000005.9 - 80168937 Oct 12, 2018 (152)
144 gnomAD - Genomes NC_000005.9 - 80168937 Oct 12, 2018 (152)
145 gnomAD - Exomes NC_000005.9 - 80168937 Oct 12, 2018 (152)
146 GO Exome Sequencing Project NC_000005.9 - 80168937 Oct 12, 2018 (152)
147 TopMed NC_000005.10 - 80873118 Oct 12, 2018 (152)
148 UK 10K study - Twins NC_000005.9 - 80168937 Oct 12, 2018 (152)
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)
rs1644176 Jan 18, 2001 (92)
rs17274719 Oct 08, 2004 (123)
rs52832672 Sep 21, 2007 (128)
rs58981124 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss84306107, ss93150276, ss109163083, ss112082811, ss162402675, ss165339290, ss166736567, ss200449861, ss253572998, ss278355177, ss285205567, ss293389352, ss480621309, ss491869254, ss825472029, ss1397417927, ss1591260303, ss1712776542, ss2635146149, ss3639284082, ss3639665575, ss3643508149 NC_000005.8:80204692:G= NC_000005.10:80873117:G= (self)
27387162, 15227040, 10827616, 7865628, 167188505, 3353852, 553041, 15227040, ss221768620, ss233010436, ss240168702, ss342184081, ss480635996, ss481473953, ss485105770, ss490906259, ss491368303, ss537110590, ss558498644, ss652371161, ss778874584, ss780838454, ss782999170, ss783521652, ss783959713, ss832256214, ss834335528, ss974456335, ss981741514, ss1067469337, ss1072759985, ss1315762242, ss1430395951, ss1581205706, ss1584039626, ss1613239833, ss1656233866, ss1687869285, ss1711091097, ss1752586651, ss1752586652, ss1803744040, ss1917791447, ss1924997129, ss1946148212, ss1946148213, ss1958799278, ss1958799279, ss1970127432, ss2023105237, ss2151261215, ss2443314700, ss2626049914, ss2634299655, ss2706812545, ss2711041984, ss2735096055, ss2747413395, ss2826560749, ss2985325466, ss2985957180, ss2997210218, ss3022502258, ss3346464387, ss3625876554, ss3629270383, ss3629270384, ss3632225634, ss3633379658, ss3634100450, ss3635009077, ss3635009078, ss3635782383, ss3636721070, ss3637535009, ss3638562862, ss3640716370, ss3640716371, ss3644881171, ss3644881172, ss3646321912, ss3652999156, ss3654099292 NC_000005.9:80168936:G= NC_000005.10:80873117:G= (self)
314584980, ss2275077818, ss3025337684, ss3468961071 NC_000005.10:80873117:G= NC_000005.10:80873117:G= (self)
ss10256882, ss11757959 NT_006713.13:9561068:G= NC_000005.10:80873117:G= (self)
ss35174, ss35223, ss1250665, ss1251306, ss1836074, ss1836174, ss2464679, ss3253889, ss8485711, ss24420398, ss44643212, ss48295705, ss48427838, ss65727076, ss66582745, ss66859496, ss67264535, ss67664213, ss68940227, ss70742927, ss71314169, ss74808999, ss74940648, ss76862440, ss79141511, ss83352688, ss86343033, ss105933563, ss122073243, ss143238449, ss154224706, ss155650459, ss159401211, ss159709668, ss160564937, ss171324797, ss173412484 NT_006713.15:30763295:G= NC_000005.10:80873117:G= (self)
ss84306107, ss93150276, ss109163083, ss112082811, ss162402675, ss165339290, ss166736567, ss200449861, ss253572998, ss278355177, ss285205567, ss293389352, ss480621309, ss491869254, ss825472029, ss1397417927, ss1591260303, ss1712776542, ss2635146149, ss3639284082, ss3639665575, ss3643508149 NC_000005.8:80204692:G>A NC_000005.10:80873117:G>A (self)
27387162, 15227040, 10827616, 7865628, 167188505, 3353852, 553041, 15227040, ss221768620, ss233010436, ss240168702, ss342184081, ss480635996, ss481473953, ss485105770, ss490906259, ss491368303, ss537110590, ss558498644, ss652371161, ss778874584, ss780838454, ss782999170, ss783521652, ss783959713, ss832256214, ss834335528, ss974456335, ss981741514, ss1067469337, ss1072759985, ss1315762242, ss1430395951, ss1581205706, ss1584039626, ss1613239833, ss1656233866, ss1687869285, ss1711091097, ss1752586651, ss1752586652, ss1803744040, ss1917791447, ss1924997129, ss1946148212, ss1946148213, ss1958799278, ss1958799279, ss1970127432, ss2023105237, ss2151261215, ss2443314700, ss2626049914, ss2634299655, ss2706812545, ss2711041984, ss2735096055, ss2747413395, ss2826560749, ss2985325466, ss2985957180, ss2997210218, ss3022502258, ss3346464387, ss3625876554, ss3629270383, ss3629270384, ss3632225634, ss3633379658, ss3634100450, ss3635009077, ss3635009078, ss3635782383, ss3636721070, ss3637535009, ss3638562862, ss3640716370, ss3640716371, ss3644881171, ss3644881172, ss3646321912, ss3652999156, ss3654099292 NC_000005.9:80168936:G>A NC_000005.10:80873117:G>A (self)
314584980, ss2275077818, ss3025337684, ss3468961071 NC_000005.10:80873117:G>A NC_000005.10:80873117:G>A (self)
ss10256882, ss11757959 NT_006713.13:9561068:G>A NC_000005.10:80873117:G>A (self)
ss35174, ss35223, ss1250665, ss1251306, ss1836074, ss1836174, ss2464679, ss3253889, ss8485711, ss24420398, ss44643212, ss48295705, ss48427838, ss65727076, ss66582745, ss66859496, ss67264535, ss67664213, ss68940227, ss70742927, ss71314169, ss74808999, ss74940648, ss76862440, ss79141511, ss83352688, ss86343033, ss105933563, ss122073243, ss143238449, ss154224706, ss155650459, ss159401211, ss159709668, ss160564937, ss171324797, ss173412484 NT_006713.15:30763295:G>A NC_000005.10:80873117: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.

17 citations for rs26279
PMID Title Author Year Journal
18364438 Common variants in mismatch repair genes and risk of colorectal cancer. Koessler T et al. 2008 Gut
18701435 Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Smith TR et al. 2008 Carcinogenesis
19781088 Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study. Conde J et al. 2009 BMC cancer
20386703 Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer. Schildkraut JM et al. 2010 PloS one
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
21700777 Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer. Smith TR et al. 2011 Carcinogenesis
21974800 DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome. Reeves SG et al. 2012 Cancer epidemiology
22454423 Genetic variations and patient-reported quality of life among patients with lung cancer. Sloan JA et al. 2012 Journal of clinical oncology
22623965 The cumulative effects of polymorphisms in the DNA mismatch repair genes and tobacco smoking in oesophageal cancer risk. Vogelsang M et al. 2012 PloS one
23946381 Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Ma X et al. 2014 Gut
24086368 An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility. Landa I et al. 2013 PloS one
25491747 Interactions between meat intake and genetic variation in relation to colorectal cancer. Andersen V et al. 2015 Genes & nutrition
26027715 Correlation between polymorphisms in DNA mismatch repair genes and the risk of primary hepatocellular carcinoma for the Han population in northern China. Liu Y et al. 2015 Scandinavian journal of gastroenterology
26811195 Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families. Talseth-Palmer BA et al. 2016 Cancer medicine
27335251 RRM1 *151A>T, RRM1 -756T>C, and RRM1 -585T>Gis associated with increased susceptibility of lung cancer in Chinese patients. Xu XL et al. 2016 Cancer medicine
29616133 Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility. Santos LS et al. 2018 Oncology letters
30038702 Polymorphisms in DNA mismatch repair pathway genes predict toxicity and response to cisplatin chemoradiation in head and neck squamous cell carcinoma patients. Nogueira GAS et al. 2018 Oncotarget

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.post58+e54ea20