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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.

rs10744729

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr12:915428 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.42952 (53934/125568, TOPMED)
T=0.4308 (13307/30890, GnomAD)
T=0.421 (2106/5008, 1000G) (+ 3 more)
T=0.481 (2154/4480, Estonian)
T=0.458 (1767/3854, ALSPAC)
T=0.453 (1681/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RAD52 : Intron Variant
Publications
3 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 12 NC_000012.12:g.915428G>T
GRCh37.p13 chr 12 NC_000012.11:g.1024594G>T
RAD52 RefSeqGene NG_017078.2:g.79614C>A
Gene: RAD52, RAD52 homolog, DNA repair protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RAD52 transcript variant 2 NM_001297419.1:c. N/A Intron Variant
RAD52 transcript variant 4 NM_001297421.1:c. N/A Intron Variant
RAD52 transcript variant 1 NM_134424.3:c. N/A Intron Variant
RAD52 transcript variant 3 NM_001297420.1:c. N/A Genic Downstream Transcript Variant
RAD52 transcript variant 5 NM_001297422.1:c. N/A Genic Downstream Transcript Variant
RAD52 transcript variant 6 NR_123713.1:n. N/A Intron Variant
RAD52 transcript variant X4 XM_005253720.5:c. N/A Intron Variant
RAD52 transcript variant X2 XM_005253721.2:c. N/A Intron Variant
RAD52 transcript variant X3 XM_011520990.2:c. N/A Intron Variant
RAD52 transcript variant X5 XM_011520991.2:c. N/A Intron Variant
RAD52 transcript variant X8 XM_011520995.3:c. N/A Intron Variant
RAD52 transcript variant X1 XM_017019769.1:c. N/A Intron Variant
RAD52 transcript variant X6 XM_017019770.1:c. N/A Intron Variant
RAD52 transcript variant X11 XM_017019771.1:c. N/A Intron Variant
RAD52 transcript variant X9 XR_001748836.1:n. N/A Intron Variant
RAD52 transcript variant X12 XR_001748837.1:n. N/A Intron Variant
RAD52 transcript variant X13 XR_001748838.2:n. N/A Intron Variant
RAD52 transcript variant X14 XR_001748839.1:n. N/A Intron Variant
RAD52 transcript variant X7 XR_002957366.1:n. N/A Intron Variant
RAD52 transcript variant X10 XR_931522.2:n. N/A Intron Variant
RAD52 transcript variant X15 XR_002957367.1:n. N/A Genic Downstream Transcript 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
TopMed Global Study-wide 125568 G=0.57048 T=0.42952
gnomAD - Genomes Global Study-wide 30890 G=0.5692 T=0.4308
gnomAD - Genomes European Sub 18458 G=0.5492 T=0.4508
gnomAD - Genomes African Sub 8704 G=0.645 T=0.355
gnomAD - Genomes East Asian Sub 1614 G=0.455 T=0.545
gnomAD - Genomes Other Sub 976 G=0.57 T=0.43
gnomAD - Genomes American Sub 838 G=0.43 T=0.57
gnomAD - Genomes Ashkenazi Jewish Sub 300 G=0.61 T=0.39
1000Genomes Global Study-wide 5008 G=0.579 T=0.421
1000Genomes African Sub 1322 G=0.691 T=0.309
1000Genomes East Asian Sub 1008 G=0.465 T=0.535
1000Genomes Europe Sub 1006 G=0.564 T=0.436
1000Genomes South Asian Sub 978 G=0.65 T=0.35
1000Genomes American Sub 694 G=0.46 T=0.54
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.519 T=0.481
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.542 T=0.458
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.547 T=0.453
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= T Note
GRCh38.p12 chr 12 NC_000012.12:g.915428G= NC_000012.12:g.915428G>T
GRCh37.p13 chr 12 NC_000012.11:g.1024594G= NC_000012.11:g.1024594G>T
RAD52 RefSeqGene NG_017078.2:g.79614C= NG_017078.2:g.79614C>A
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#.

96 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss16028661 Feb 27, 2004 (120)
2 EGP_SNPS ss16343906 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss16561153 Feb 27, 2004 (120)
4 SC_SNP ss18501986 Feb 27, 2004 (120)
5 SC_SNP ss18737161 Feb 27, 2004 (120)
6 ABI ss38865838 Mar 14, 2006 (126)
7 ILLUMINA ss66633916 Nov 29, 2006 (127)
8 EGP_SNPS ss66858078 Nov 29, 2006 (127)
9 ILLUMINA ss66897710 Nov 29, 2006 (127)
10 ILLUMINA ss67009382 Nov 29, 2006 (127)
11 ILLUMINA ss70377719 May 16, 2007 (127)
12 ILLUMINA ss70493783 May 25, 2008 (130)
13 ILLUMINA ss71018672 May 16, 2007 (127)
14 ILLUMINA ss75498296 Dec 06, 2007 (129)
15 KRIBB_YJKIM ss84986260 Dec 15, 2007 (130)
16 BGI ss103017518 Dec 01, 2009 (131)
17 1000GENOMES ss115427348 Jan 25, 2009 (130)
18 ILLUMINA-UK ss118507342 Feb 14, 2009 (130)
19 ILLUMINA ss121376965 Dec 01, 2009 (131)
20 ILLUMINA ss152803410 Dec 01, 2009 (131)
21 GMI ss157005121 Dec 01, 2009 (131)
22 ILLUMINA ss159138665 Dec 01, 2009 (131)
23 ILLUMINA ss159914146 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167623796 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss168834906 Jul 04, 2010 (132)
26 ILLUMINA ss169585401 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss170229948 Jul 04, 2010 (132)
28 ILLUMINA ss170437559 Jul 04, 2010 (132)
29 BUSHMAN ss203444831 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss208034247 Jul 04, 2010 (132)
31 1000GENOMES ss225564067 Jul 14, 2010 (132)
32 1000GENOMES ss235792690 Jul 15, 2010 (132)
33 1000GENOMES ss242377314 Jul 15, 2010 (132)
34 BL ss254809521 May 09, 2011 (134)
35 GMI ss281241752 May 04, 2012 (137)
36 GMI ss286490336 Apr 25, 2013 (138)
37 PJP ss291236500 May 09, 2011 (134)
38 ILLUMINA ss479328778 May 04, 2012 (137)
39 ILLUMINA ss479331896 May 04, 2012 (137)
40 ILLUMINA ss479722453 Sep 08, 2015 (146)
41 ILLUMINA ss484464617 May 04, 2012 (137)
42 ILLUMINA ss536627647 Sep 08, 2015 (146)
43 TISHKOFF ss562944501 Apr 25, 2013 (138)
44 SSMP ss658469362 Apr 25, 2013 (138)
45 ILLUMINA ss778738036 Sep 08, 2015 (146)
46 ILLUMINA ss782678876 Sep 08, 2015 (146)
47 ILLUMINA ss783647422 Sep 08, 2015 (146)
48 ILLUMINA ss825347330 Apr 01, 2015 (144)
49 ILLUMINA ss831929640 Sep 08, 2015 (146)
50 ILLUMINA ss834197590 Sep 08, 2015 (146)
51 EVA-GONL ss989156854 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1078189549 Aug 21, 2014 (142)
53 1000GENOMES ss1343698153 Aug 21, 2014 (142)
54 DDI ss1426817615 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1576066116 Apr 01, 2015 (144)
56 EVA_DECODE ss1598827854 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1627860396 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1670854429 Apr 01, 2015 (144)
59 EVA_SVP ss1713300513 Apr 01, 2015 (144)
60 ILLUMINA ss1752042652 Sep 08, 2015 (146)
61 HAMMER_LAB ss1807082067 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1932516638 Feb 12, 2016 (147)
63 ILLUMINA ss1946328607 Feb 12, 2016 (147)
64 ILLUMINA ss1959404951 Feb 12, 2016 (147)
65 GENOMED ss1967504688 Jul 19, 2016 (147)
66 JJLAB ss2027005474 Sep 14, 2016 (149)
67 USC_VALOUEV ss2155323810 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2187200056 Dec 20, 2016 (150)
69 TOPMED ss2350803210 Dec 20, 2016 (150)
70 SYSTEMSBIOZJU ss2627979171 Nov 08, 2017 (151)
71 ILLUMINA ss2632913774 Nov 08, 2017 (151)
72 ILLUMINA ss2635032561 Nov 08, 2017 (151)
73 GRF ss2699642056 Nov 08, 2017 (151)
74 ILLUMINA ss2710751119 Nov 08, 2017 (151)
75 GNOMAD ss2906487118 Nov 08, 2017 (151)
76 SWEGEN ss3009075081 Nov 08, 2017 (151)
77 ILLUMINA ss3021397203 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3027305570 Nov 08, 2017 (151)
79 TOPMED ss3161022111 Nov 08, 2017 (151)
80 CSHL ss3349882846 Nov 08, 2017 (151)
81 ILLUMINA ss3625613942 Oct 12, 2018 (152)
82 ILLUMINA ss3626795950 Oct 12, 2018 (152)
83 ILLUMINA ss3630926117 Oct 12, 2018 (152)
84 ILLUMINA ss3633007079 Oct 12, 2018 (152)
85 ILLUMINA ss3633707417 Oct 12, 2018 (152)
86 ILLUMINA ss3634486152 Oct 12, 2018 (152)
87 ILLUMINA ss3635398530 Oct 12, 2018 (152)
88 ILLUMINA ss3636170364 Oct 12, 2018 (152)
89 ILLUMINA ss3637149471 Oct 12, 2018 (152)
90 ILLUMINA ss3637941984 Oct 12, 2018 (152)
91 ILLUMINA ss3638984947 Oct 12, 2018 (152)
92 ILLUMINA ss3639494046 Oct 12, 2018 (152)
93 ILLUMINA ss3640193487 Oct 12, 2018 (152)
94 ILLUMINA ss3642937482 Oct 12, 2018 (152)
95 ILLUMINA ss3644581539 Oct 12, 2018 (152)
96 ILLUMINA ss3651767873 Oct 12, 2018 (152)
97 1000Genomes NC_000012.11 - 1024594 Oct 12, 2018 (152)
98 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 1024594 Oct 12, 2018 (152)
99 Genetic variation in the Estonian population NC_000012.11 - 1024594 Oct 12, 2018 (152)
100 gnomAD - Genomes NC_000012.11 - 1024594 Oct 12, 2018 (152)
101 TopMed NC_000012.12 - 915428 Oct 12, 2018 (152)
102 UK 10K study - Twins NC_000012.11 - 1024594 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)
rs59535942 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3638984947, ss3639494046 NC_000012.9:894854:G= NC_000012.12:915427:G=
ss115427348, ss118507342, ss167623796, ss168834906, ss170229948, ss203444831, ss208034247, ss254809521, ss281241752, ss286490336, ss291236500, ss479328778, ss825347330, ss1598827854, ss1713300513, ss2635032561, ss3642937482 NC_000012.10:894854:G= NC_000012.12:915427:G= (self)
56305672, 31267816, 22144404, 40188641, 31267816, ss225564067, ss235792690, ss242377314, ss479331896, ss479722453, ss484464617, ss536627647, ss562944501, ss658469362, ss778738036, ss782678876, ss783647422, ss831929640, ss834197590, ss989156854, ss1078189549, ss1343698153, ss1426817615, ss1576066116, ss1627860396, ss1670854429, ss1752042652, ss1807082067, ss1932516638, ss1946328607, ss1959404951, ss1967504688, ss2027005474, ss2155323810, ss2350803210, ss2627979171, ss2632913774, ss2699642056, ss2710751119, ss2906487118, ss3009075081, ss3021397203, ss3349882846, ss3625613942, ss3626795950, ss3630926117, ss3633007079, ss3633707417, ss3634486152, ss3635398530, ss3636170364, ss3637149471, ss3637941984, ss3640193487, ss3644581539, ss3651767873 NC_000012.11:1024593:G= NC_000012.12:915427:G= (self)
76256101, ss2187200056, ss3027305570, ss3161022111 NC_000012.12:915427:G= NC_000012.12:915427:G= (self)
ss16028661, ss16561153, ss18501986, ss18737161 NT_009759.15:878854:G= NC_000012.12:915427:G= (self)
ss16343906, ss38865838, ss66633916, ss66858078, ss66897710, ss67009382, ss70377719, ss70493783, ss71018672, ss75498296, ss84986260, ss103017518, ss121376965, ss152803410, ss157005121, ss159138665, ss159914146, ss169585401, ss170437559 NT_009759.16:964593:G= NC_000012.12:915427:G= (self)
ss3638984947, ss3639494046 NC_000012.9:894854:G>T NC_000012.12:915427:G>T
ss115427348, ss118507342, ss167623796, ss168834906, ss170229948, ss203444831, ss208034247, ss254809521, ss281241752, ss286490336, ss291236500, ss479328778, ss825347330, ss1598827854, ss1713300513, ss2635032561, ss3642937482 NC_000012.10:894854:G>T NC_000012.12:915427:G>T (self)
56305672, 31267816, 22144404, 40188641, 31267816, ss225564067, ss235792690, ss242377314, ss479331896, ss479722453, ss484464617, ss536627647, ss562944501, ss658469362, ss778738036, ss782678876, ss783647422, ss831929640, ss834197590, ss989156854, ss1078189549, ss1343698153, ss1426817615, ss1576066116, ss1627860396, ss1670854429, ss1752042652, ss1807082067, ss1932516638, ss1946328607, ss1959404951, ss1967504688, ss2027005474, ss2155323810, ss2350803210, ss2627979171, ss2632913774, ss2699642056, ss2710751119, ss2906487118, ss3009075081, ss3021397203, ss3349882846, ss3625613942, ss3626795950, ss3630926117, ss3633007079, ss3633707417, ss3634486152, ss3635398530, ss3636170364, ss3637149471, ss3637941984, ss3640193487, ss3644581539, ss3651767873 NC_000012.11:1024593:G>T NC_000012.12:915427:G>T (self)
76256101, ss2187200056, ss3027305570, ss3161022111 NC_000012.12:915427:G>T NC_000012.12:915427:G>T (self)
ss16028661, ss16561153, ss18501986, ss18737161 NT_009759.15:878854:G>T NC_000012.12:915427:G>T (self)
ss16343906, ss38865838, ss66633916, ss66858078, ss66897710, ss67009382, ss70377719, ss70493783, ss71018672, ss75498296, ss84986260, ss103017518, ss121376965, ss152803410, ss157005121, ss159138665, ss159914146, ss169585401, ss170437559 NT_009759.16:964593:G>T NC_000012.12:915427:G>T (self)
Help

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

3 citations for rs10744729
PMID Title Author Year Journal
19276285 Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer. Sehl ME et al. 2009 Clinical cancer research
20439344 Genetic variation in glutathione metabolism and DNA repair genes predicts survival of small-cell lung cancer patients. Sun Z et al. 2010 Annals of oncology
22454423 Genetic variations and patient-reported quality of life among patients with lung cancer. Sloan JA et al. 2012 Journal of clinical oncology

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