Name: rs11552449
Published: September 21, 2022
License: Open Access

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.

rs11552449

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:113905767 (GRCh38.p14) 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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.172470 (45651/264690, TOPMED)
T=0.184601 (47077/255020, ALFA)
T=0.223413 (55284/247452, GnomAD_exome) (+ 24 more)
T=0.153270 (21482/140158, GnomAD)
T=0.211816 (25481/120298, ExAC)
T=0.21588 (16987/78686, PAGE_STUDY)
C=0.48645 (13745/28256, 14KJPN)
C=0.48908 (8197/16760, 8.3KJPN)
T=0.12917 (1680/13006, GO-ESP)
T=0.2367 (1516/6404, 1000G_30x)
T=0.2422 (1213/5008, 1000G)
T=0.1746 (782/4480, Estonian)
T=0.1751 (675/3854, ALSPAC)
T=0.1729 (641/3708, TWINSUK)
C=0.3952 (1158/2930, KOREAN)
C=0.3963 (726/1832, Korea1K)
T=0.2337 (417/1784, HapMap)
T=0.161 (161/998, GoNL)
C=0.384 (289/752, PRJEB37584)
T=0.140 (84/600, NorthernSweden)
T=0.167 (89/534, MGP)
T=0.178 (54/304, FINRISK)
C=0.379 (85/224, SGDP_PRJ)
T=0.204 (44/216, Qatari)
C=0.449 (96/214, Vietnamese)
T=0.20 (8/40, GENOME_DK)
C=0.36 (8/22, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DCLRE1B : Missense Variant
AP4B1 : 2KB Upstream Variant
Publications: 14 citations
Genomic View: See rs on genome

ALFA Allele Frequency
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	271308	C=0.819268	T=0.180732
European	Sub	225426	C=0.834349	T=0.165651
African	Sub	10676	C=0.95747	T=0.04253
African Others	Sub	378	C=0.987	T=0.013
African American	Sub	10298	C=0.95640	T=0.04360
Asian	Sub	6664	C=0.3908	T=0.6092
East Asian	Sub	4782	C=0.3785	T=0.6215
Other Asian	Sub	1882	C=0.4219	T=0.5781
Latin American 1	Sub	924	C=0.851	T=0.149
Latin American 2	Sub	5314	C=0.5679	T=0.4321
South Asian	Sub	330	C=0.873	T=0.127
Other	Sub	21974	C=0.78602	T=0.21398

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	C=0.827530	T=0.172470
Allele Frequency Aggregator	Total	Global	255020	C=0.815399	T=0.184601
Allele Frequency Aggregator	European	Sub	215418	C=0.834090	T=0.165910
Allele Frequency Aggregator	Other	Sub	20532	C=0.78059	T=0.21941
Allele Frequency Aggregator	Asian	Sub	6664	C=0.3908	T=0.6092
Allele Frequency Aggregator	African	Sub	5838	C=0.9493	T=0.0507
Allele Frequency Aggregator	Latin American 2	Sub	5314	C=0.5679	T=0.4321
Allele Frequency Aggregator	Latin American 1	Sub	924	C=0.851	T=0.149
Allele Frequency Aggregator	South Asian	Sub	330	C=0.873	T=0.127
gnomAD - Exomes	Global	Study-wide	247452	C=0.776587	T=0.223413
gnomAD - Exomes	European	Sub	132240	C=0.829295	T=0.170705
gnomAD - Exomes	Asian	Sub	48760	C=0.69245	T=0.30755
gnomAD - Exomes	American	Sub	34148	C=0.56665	T=0.43335
gnomAD - Exomes	African	Sub	16238	C=0.96533	T=0.03467
gnomAD - Exomes	Ashkenazi Jewish	Sub	10000	C=0.8815	T=0.1185
gnomAD - Exomes	Other	Sub	6066	C=0.8075	T=0.1925
gnomAD - Genomes	Global	Study-wide	140158	C=0.846730	T=0.153270
gnomAD - Genomes	European	Sub	75892	C=0.82932	T=0.17068
gnomAD - Genomes	African	Sub	42038	C=0.95987	T=0.04013
gnomAD - Genomes	American	Sub	13634	C=0.69063	T=0.30937
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.8821	T=0.1179
gnomAD - Genomes	East Asian	Sub	3122	C=0.4042	T=0.5958
gnomAD - Genomes	Other	Sub	2148	C=0.8268	T=0.1732
ExAC	Global	Study-wide	120298	C=0.788184	T=0.211816
ExAC	Europe	Sub	72826	C=0.82915	T=0.17085
ExAC	Asian	Sub	24744	C=0.70312	T=0.29688
ExAC	American	Sub	11500	C=0.55183	T=0.44817
ExAC	African	Sub	10336	C=0.96111	T=0.03889
ExAC	Other	Sub	892	C=0.846	T=0.154
The PAGE Study	Global	Study-wide	78686	C=0.78412	T=0.21588
The PAGE Study	AfricanAmerican	Sub	32508	C=0.95936	T=0.04064
The PAGE Study	Mexican	Sub	10806	C=0.60439	T=0.39561
The PAGE Study	Asian	Sub	8316	C=0.4732	T=0.5268
The PAGE Study	PuertoRican	Sub	7918	C=0.7765	T=0.2235
The PAGE Study	NativeHawaiian	Sub	4532	C=0.5836	T=0.4164
The PAGE Study	Cuban	Sub	4230	C=0.8222	T=0.1778
The PAGE Study	Dominican	Sub	3828	C=0.8717	T=0.1283
The PAGE Study	CentralAmerican	Sub	2450	C=0.6327	T=0.3673
The PAGE Study	SouthAmerican	Sub	1982	C=0.5923	T=0.4077
The PAGE Study	NativeAmerican	Sub	1260	C=0.7738	T=0.2262
The PAGE Study	SouthAsian	Sub	856	C=0.863	T=0.137
14KJPN	JAPANESE	Study-wide	28256	C=0.48645	T=0.51355
8.3KJPN	JAPANESE	Study-wide	16760	C=0.48908	T=0.51092
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.87083	T=0.12917
GO Exome Sequencing Project	European American	Sub	8600	C=0.8262	T=0.1738
GO Exome Sequencing Project	African American	Sub	4406	C=0.9580	T=0.0420
1000Genomes_30x	Global	Study-wide	6404	C=0.7633	T=0.2367
1000Genomes_30x	African	Sub	1786	C=0.9871	T=0.0129
1000Genomes_30x	Europe	Sub	1266	C=0.8041	T=0.1959
1000Genomes_30x	South Asian	Sub	1202	C=0.8511	T=0.1489
1000Genomes_30x	East Asian	Sub	1170	C=0.4051	T=0.5949
1000Genomes_30x	American	Sub	980	C=0.622	T=0.378
1000Genomes	Global	Study-wide	5008	C=0.7578	T=0.2422
1000Genomes	African	Sub	1322	C=0.9849	T=0.0151
1000Genomes	East Asian	Sub	1008	C=0.4127	T=0.5873
1000Genomes	Europe	Sub	1006	C=0.8091	T=0.1909
1000Genomes	South Asian	Sub	978	C=0.854	T=0.146
1000Genomes	American	Sub	694	C=0.617	T=0.383
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8254	T=0.1746
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8249	T=0.1751
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8271	T=0.1729
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3952	T=0.6048
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3963	T=0.6037
HapMap	Global	Study-wide	1784	C=0.7663	T=0.2337
HapMap	American	Sub	770	C=0.717	T=0.283
HapMap	African	Sub	586	C=0.951	T=0.049
HapMap	Asian	Sub	252	C=0.440	T=0.560
HapMap	Europe	Sub	176	C=0.835	T=0.165
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.839	T=0.161
CNV burdens in cranial meningiomas	Global	Study-wide	752	C=0.384	T=0.616
CNV burdens in cranial meningiomas	CRM	Sub	752	C=0.384	T=0.616
Northern Sweden	ACPOP	Study-wide	600	C=0.860	T=0.140
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.833	T=0.167
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.822	T=0.178
SGDP_PRJ	Global	Study-wide	224	C=0.379	T=0.621
Qatari	Global	Study-wide	216	C=0.796	T=0.204
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.449	T=0.551
The Danish reference pan genome	Danish	Study-wide	40	C=0.80	T=0.20
Siberian	Global	Study-wide	22	C=0.36	T=0.64

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.p14 chr 1	NC_000001.11:g.113905767C>G
GRCh38.p14 chr 1	NC_000001.11:g.113905767C>T
GRCh37.p13 chr 1	NC_000001.10:g.114448389C>G
GRCh37.p13 chr 1	NC_000001.10:g.114448389C>T
AP4B1 RefSeqGene	NG_031901.1:g.4353G>C
AP4B1 RefSeqGene	NG_031901.1:g.4353G>A
DCLRE1B RefSeqGene (LRG_1219)	NG_057565.1:g.6149C>G
DCLRE1B RefSeqGene (LRG_1219)	NG_057565.1:g.6149C>T

Gene: DCLRE1B, DNA cross-link repair 1B (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DCLRE1B transcript variant 3	NM_001319947.2:c.-32=	N/A	5 Prime UTR Variant
DCLRE1B transcript variant 2	NM_001319946.2:c.-32=	N/A	5 Prime UTR Variant
DCLRE1B transcript variant 5	NM_001363691.2:c.-32=	N/A	5 Prime UTR Variant
DCLRE1B transcript variant 1	NM_022836.4:c.181C>G	H [CAC] > D [GAC]	Coding Sequence Variant
5' exonuclease Apollo isoform a	NP_073747.1:p.His61Asp	H (His) > D (Asp)	Missense Variant
DCLRE1B transcript variant 1	NM_022836.4:c.181C>T	H [CAC] > Y [TAC]	Coding Sequence Variant
5' exonuclease Apollo isoform a	NP_073747.1:p.His61Tyr	H (His) > Y (Tyr)	Missense Variant
DCLRE1B transcript variant 4	NM_001363690.2:c.181C>G	H [CAC] > D [GAC]	Coding Sequence Variant
5' exonuclease Apollo isoform c	NP_001350619.1:p.His61Asp	H (His) > D (Asp)	Missense Variant
DCLRE1B transcript variant 4	NM_001363690.2:c.181C>T	H [CAC] > Y [TAC]	Coding Sequence Variant
5' exonuclease Apollo isoform c	NP_001350619.1:p.His61Tyr	H (His) > Y (Tyr)	Missense Variant

Gene: AP4B1, adaptor related protein complex 4 subunit beta 1 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
AP4B1 transcript variant 2	NM_001253852.3:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant 3	NM_001253853.3:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant 4	NM_001308312.2:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant 1	NM_006594.5:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X2	XM_011540523.4:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X3	XM_011540525.4:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X5	XM_017000090.2:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X7	XM_017000091.3:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X12	XM_017000093.3:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X4	XM_024452423.2:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X6	XM_024452435.2:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X9	XM_024452441.2:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X1	XM_047438847.1:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X10	XM_047439052.1:c.	N/A	Upstream Transcript Variant
AP4B1 transcript variant X8	XM_047439008.1:c.	N/A	N/A
AP4B1 transcript variant X11	XM_047439078.1:c.	N/A	N/A
AP4B1 transcript variant X13	XR_007066904.1:n.	N/A	Upstream Transcript Variant

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: T (allele ID: 227585 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001521544.3	Hereditary spastic paraplegia 47	Benign
RCV001521545.3	Autosomal recessive dyskeratosis congenita,Hoyeraal-Hreidarsson syndrome	Benign
RCV001651069.2	not provided	Benign

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	C=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.113905767=	NC_000001.11:g.113905767C>G	NC_000001.11:g.113905767C>T
GRCh37.p13 chr 1	NC_000001.10:g.114448389=	NC_000001.10:g.114448389C>G	NC_000001.10:g.114448389C>T
AP4B1 RefSeqGene	NG_031901.1:g.4353=	NG_031901.1:g.4353G>C	NG_031901.1:g.4353G>A
DCLRE1B RefSeqGene (LRG_1219)	NG_057565.1:g.6149=	NG_057565.1:g.6149C>G	NG_057565.1:g.6149C>T
DCLRE1B transcript variant 1	NM_022836.4:c.181=	NM_022836.4:c.181C>G	NM_022836.4:c.181C>T
DCLRE1B transcript variant 1	NM_022836.3:c.181=	NM_022836.3:c.181C>G	NM_022836.3:c.181C>T
DCLRE1B transcript variant 2	NM_001319946.2:c.-32=	NM_001319946.2:c.-32C>G	NM_001319946.2:c.-32C>T
DCLRE1B transcript variant 2	NM_001319946.1:c.-32=	NM_001319946.1:c.-32C>G	NM_001319946.1:c.-32C>T
DCLRE1B transcript variant 3	NM_001319947.2:c.-32=	NM_001319947.2:c.-32C>G	NM_001319947.2:c.-32C>T
DCLRE1B transcript variant 3	NM_001319947.1:c.-32=	NM_001319947.1:c.-32C>G	NM_001319947.1:c.-32C>T
DCLRE1B transcript variant 4	NM_001363690.2:c.181=	NM_001363690.2:c.181C>G	NM_001363690.2:c.181C>T
DCLRE1B transcript variant 4	NM_001363690.1:c.181=	NM_001363690.1:c.181C>G	NM_001363690.1:c.181C>T
DCLRE1B transcript variant 5	NM_001363691.2:c.-32=	NM_001363691.2:c.-32C>G	NM_001363691.2:c.-32C>T
DCLRE1B transcript variant 5	NM_001363691.1:c.-32=	NM_001363691.1:c.-32C>G	NM_001363691.1:c.-32C>T
5' exonuclease Apollo isoform a	NP_073747.1:p.His61=	NP_073747.1:p.His61Asp	NP_073747.1:p.His61Tyr
5' exonuclease Apollo isoform c	NP_001350619.1:p.His61=	NP_001350619.1:p.His61Asp	NP_001350619.1:p.His61Tyr

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#.

149 SubSNP, 27 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18071371	Feb 28, 2004 (130)
2	PERLEGEN	ss23851621	Sep 20, 2004 (130)
3	EGP_SNPS	ss35072705	May 24, 2005 (130)
4	APPLERA_GI	ss48429594	Mar 15, 2006 (130)
5	PERLEGEN	ss68778421	May 18, 2007 (130)
6	AFFY	ss74815010	Aug 16, 2007 (130)
7	ILLUMINA	ss74887929	Dec 06, 2007 (129)
8	SI_EXO	ss76889001	Dec 06, 2007 (129)
9	CANCER-GENOME	ss86349090	Mar 23, 2008 (129)
10	BCMHGSC_JDW	ss87727671	Mar 23, 2008 (129)
11	1000GENOMES	ss108537950	Feb 13, 2009 (130)
12	ENSEMBL	ss138063562	Dec 01, 2009 (131)
13	SEATTLESEQ	ss159698373	Dec 01, 2009 (131)
14	ILLUMINA	ss160026599	Dec 01, 2009 (131)
15	ILLUMINA	ss171795295	Jul 04, 2010 (132)
16	BUSHMAN	ss198955695	Jul 04, 2010 (132)
17	1000GENOMES	ss230698918	Jul 14, 2010 (132)
18	1000GENOMES	ss238355123	Jul 15, 2010 (132)
19	GMI	ss275984945	May 04, 2012 (137)
20	GMI	ss284124240	Apr 25, 2013 (138)
21	NHLBI-ESP	ss341983108	May 09, 2011 (134)
22	ILLUMINA	ss479653415	May 04, 2012 (137)
23	ILLUMINA	ss479658724	May 04, 2012 (137)
24	ILLUMINA	ss480172236	Sep 08, 2015 (146)
25	ILLUMINA	ss484625356	May 04, 2012 (137)
26	1000GENOMES	ss489758569	May 04, 2012 (137)
27	EXOME_CHIP	ss491298627	May 04, 2012 (137)
28	CLINSEQ_SNP	ss491600656	May 04, 2012 (137)
29	ILLUMINA	ss536747169	Sep 08, 2015 (146)
30	TISHKOFF	ss554595380	Apr 25, 2013 (138)
31	SSMP	ss648324514	Apr 25, 2013 (138)
32	ILLUMINA	ss778397737	Sep 08, 2015 (146)
33	ILLUMINA	ss780890752	Sep 08, 2015 (146)
34	ILLUMINA	ss782759492	Sep 08, 2015 (146)
35	ILLUMINA	ss783577089	Sep 08, 2015 (146)
36	ILLUMINA	ss783725962	Sep 08, 2015 (146)
37	ILLUMINA	ss832011728	Sep 08, 2015 (146)
38	ILLUMINA	ss833852870	Sep 08, 2015 (146)
39	JMKIDD_LAB	ss974436734	Aug 21, 2014 (142)
40	EVA-GONL	ss975588873	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1067424583	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1068206506	Aug 21, 2014 (142)
43	1000GENOMES	ss1292503838	Aug 21, 2014 (142)
44	DDI	ss1425942716	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1574334585	Apr 01, 2015 (144)
46	EVA_FINRISK	ss1584010219	Apr 01, 2015 (144)
47	EVA_DECODE	ss1584969768	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1601028211	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1644022244	Apr 01, 2015 (144)
50	EVA_EXAC	ss1685699056	Apr 01, 2015 (144)
51	EVA_MGP	ss1710916820	Apr 01, 2015 (144)
52	EVA_SVP	ss1712364521	Apr 01, 2015 (144)
53	ILLUMINA	ss1751864649	Sep 08, 2015 (146)
54	ILLUMINA	ss1751864650	Sep 08, 2015 (146)
55	ILLUMINA	ss1917732907	Feb 12, 2016 (147)
56	WEILL_CORNELL_DGM	ss1918788978	Feb 12, 2016 (147)
57	ILLUMINA	ss1946005637	Feb 12, 2016 (147)
58	ILLUMINA	ss1958304806	Feb 12, 2016 (147)
59	GENOMED	ss1966845571	Jul 19, 2016 (147)
60	JJLAB	ss2019918895	Sep 14, 2016 (149)
61	ILLUMINA	ss2094847452	Dec 20, 2016 (150)
62	ILLUMINA	ss2094973009	Dec 20, 2016 (150)
63	USC_VALOUEV	ss2147937769	Dec 20, 2016 (150)
64	HUMAN_LONGEVITY	ss2165861507	Dec 20, 2016 (150)
65	SYSTEMSBIOZJU	ss2624469130	Nov 08, 2017 (151)
66	ILLUMINA	ss2632565506	Nov 08, 2017 (151)
67	ILLUMINA	ss2635002502	Nov 08, 2017 (151)
68	GRF	ss2697868101	Nov 08, 2017 (151)
69	ILLUMINA	ss2710680404	Nov 08, 2017 (151)
70	GNOMAD	ss2731731520	Nov 08, 2017 (151)
71	GNOMAD	ss2746399870	Nov 08, 2017 (151)
72	GNOMAD	ss2759765648	Nov 08, 2017 (151)
73	AFFY	ss2984871618	Nov 08, 2017 (151)
74	AFFY	ss2985522547	Nov 08, 2017 (151)
75	SWEGEN	ss2987468022	Nov 08, 2017 (151)
76	ILLUMINA	ss3021122848	Nov 08, 2017 (151)
77	EVA_SAMSUNG_MC	ss3023056930	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3023724007	Nov 08, 2017 (151)
79	CSHL	ss3343643338	Nov 08, 2017 (151)
80	ILLUMINA	ss3626187061	Oct 11, 2018 (152)
81	ILLUMINA	ss3626187062	Oct 11, 2018 (152)
82	ILLUMINA	ss3630599066	Oct 11, 2018 (152)
83	ILLUMINA	ss3632906818	Oct 11, 2018 (152)
84	ILLUMINA	ss3633601981	Oct 11, 2018 (152)
85	ILLUMINA	ss3634344170	Oct 11, 2018 (152)
86	ILLUMINA	ss3634344171	Oct 11, 2018 (152)
87	ILLUMINA	ss3635295513	Oct 11, 2018 (152)
88	ILLUMINA	ss3636022547	Oct 11, 2018 (152)
89	ILLUMINA	ss3637045984	Oct 11, 2018 (152)
90	ILLUMINA	ss3637781237	Oct 11, 2018 (152)
91	ILLUMINA	ss3640051529	Oct 11, 2018 (152)
92	ILLUMINA	ss3640051530	Oct 11, 2018 (152)
93	ILLUMINA	ss3642790927	Oct 11, 2018 (152)
94	ILLUMINA	ss3644501605	Oct 11, 2018 (152)
95	OMUKHERJEE_ADBS	ss3646235116	Oct 11, 2018 (152)
96	ILLUMINA	ss3651455671	Oct 11, 2018 (152)
97	ILLUMINA	ss3651455672	Oct 11, 2018 (152)
98	ILLUMINA	ss3653643655	Oct 11, 2018 (152)
99	EGCUT_WGS	ss3655556963	Jul 12, 2019 (153)
100	EVA_DECODE	ss3687566113	Jul 12, 2019 (153)
101	ILLUMINA	ss3725056328	Jul 12, 2019 (153)
102	ACPOP	ss3727404069	Jul 12, 2019 (153)
103	ILLUMINA	ss3744350018	Jul 12, 2019 (153)
104	ILLUMINA	ss3744645118	Jul 12, 2019 (153)
105	ILLUMINA	ss3744645119	Jul 12, 2019 (153)
106	EVA	ss3746694022	Jul 12, 2019 (153)
107	PAGE_CC	ss3770834331	Jul 12, 2019 (153)
108	ILLUMINA	ss3772146310	Jul 12, 2019 (153)
109	ILLUMINA	ss3772146311	Jul 12, 2019 (153)
110	PACBIO	ss3783524643	Jul 12, 2019 (153)
111	PACBIO	ss3789165625	Jul 12, 2019 (153)
112	PACBIO	ss3794038558	Jul 12, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3799696694	Jul 12, 2019 (153)
114	EVA	ss3823643816	Apr 25, 2020 (154)
115	EVA	ss3825518276	Apr 25, 2020 (154)
116	EVA	ss3825535338	Apr 25, 2020 (154)
117	EVA	ss3825572337	Apr 25, 2020 (154)
118	EVA	ss3826379308	Apr 25, 2020 (154)
119	SGDP_PRJ	ss3849686783	Apr 25, 2020 (154)
120	KRGDB	ss3894785945	Apr 25, 2020 (154)
121	KOGIC	ss3945284087	Apr 25, 2020 (154)
122	FSA-LAB	ss3983941286	Apr 25, 2021 (155)
123	FSA-LAB	ss3983941287	Apr 25, 2021 (155)
124	EVA	ss3984463273	Apr 25, 2021 (155)
125	EVA	ss3986132138	Apr 25, 2021 (155)
126	TOPMED	ss4464240667	Apr 25, 2021 (155)
127	TOMMO_GENOMICS	ss5145762859	Apr 25, 2021 (155)
128	EVA	ss5236871949	Apr 25, 2021 (155)
129	1000G_HIGH_COVERAGE	ss5243671378	Oct 12, 2022 (156)
130	EVA	ss5314645213	Oct 12, 2022 (156)
131	EVA	ss5321297755	Oct 12, 2022 (156)
132	HUGCELL_USP	ss5444588672	Oct 12, 2022 (156)
133	EVA	ss5506003140	Oct 12, 2022 (156)
134	1000G_HIGH_COVERAGE	ss5516696605	Oct 12, 2022 (156)
135	EVA	ss5623995844	Oct 12, 2022 (156)
136	SANFORD_IMAGENETICS	ss5624215799	Oct 12, 2022 (156)
137	SANFORD_IMAGENETICS	ss5626333423	Oct 12, 2022 (156)
138	TOMMO_GENOMICS	ss5671056154	Oct 12, 2022 (156)
139	EVA	ss5799409767	Oct 12, 2022 (156)
140	EVA	ss5799496455	Oct 12, 2022 (156)
141	YY_MCH	ss5800947205	Oct 12, 2022 (156)
142	EVA	ss5832508100	Oct 12, 2022 (156)
143	EVA	ss5847551945	Oct 12, 2022 (156)
144	EVA	ss5848268517	Oct 12, 2022 (156)
145	EVA	ss5849075143	Oct 12, 2022 (156)
146	EVA	ss5909872336	Oct 12, 2022 (156)
147	EVA	ss5936511185	Oct 12, 2022 (156)
148	EVA	ss5938201324	Oct 12, 2022 (156)
149	EVA	ss5979979513	Oct 12, 2022 (156)
150	1000Genomes	NC_000001.10 - 114448389	Oct 11, 2018 (152)
151	1000Genomes_30x	NC_000001.11 - 113905767	Oct 12, 2022 (156)
152	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 114448389	Oct 11, 2018 (152)
153	Genetic variation in the Estonian population	NC_000001.10 - 114448389	Oct 11, 2018 (152)
154	ExAC	NC_000001.10 - 114448389	Oct 11, 2018 (152)
155	FINRISK	NC_000001.10 - 114448389	Apr 25, 2020 (154)
156	The Danish reference pan genome	NC_000001.10 - 114448389	Apr 25, 2020 (154)
157	gnomAD - Genomes	NC_000001.11 - 113905767	Apr 25, 2021 (155)
158	gnomAD - Exomes	NC_000001.10 - 114448389	Jul 12, 2019 (153)
159	GO Exome Sequencing Project	NC_000001.10 - 114448389	Oct 11, 2018 (152)
160	Genome of the Netherlands Release 5	NC_000001.10 - 114448389	Apr 25, 2020 (154)
161	HapMap	NC_000001.11 - 113905767	Apr 25, 2020 (154)
162	KOREAN population from KRGDB	NC_000001.10 - 114448389	Apr 25, 2020 (154)
163	Korean Genome Project	NC_000001.11 - 113905767	Apr 25, 2020 (154)
164	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 114448389	Apr 25, 2020 (154)
165	Northern Sweden	NC_000001.10 - 114448389	Jul 12, 2019 (153)
166	The PAGE Study	NC_000001.11 - 113905767	Jul 12, 2019 (153)
167	CNV burdens in cranial meningiomas	NC_000001.10 - 114448389	Apr 25, 2021 (155)
168	Qatari	NC_000001.10 - 114448389	Apr 25, 2020 (154)
169	SGDP_PRJ	NC_000001.10 - 114448389	Apr 25, 2020 (154)
170	Siberian	NC_000001.10 - 114448389	Apr 25, 2020 (154)
171	8.3KJPN	NC_000001.10 - 114448389	Apr 25, 2021 (155)
172	14KJPN	NC_000001.11 - 113905767	Oct 12, 2022 (156)
173	TopMed	NC_000001.11 - 113905767	Apr 25, 2021 (155)
174	UK 10K study - Twins	NC_000001.10 - 114448389	Oct 11, 2018 (152)
175	A Vietnamese Genetic Variation Database	NC_000001.10 - 114448389	Jul 12, 2019 (153)
176	ALFA	NC_000001.11 - 113905767	Apr 25, 2021 (155)
177	ClinVar	RCV001521544.3	Oct 12, 2022 (156)
178	ClinVar	RCV001521545.3	Oct 12, 2022 (156)
179	ClinVar	RCV001651069.2	Oct 12, 2022 (156)

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)
rs12022378	May 24, 2008 (130)
rs52822912	Sep 21, 2007 (128)
rs117271651	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss198955695	NC_000001.9:114249911:C:G	NC_000001.11:113905766:C:G	(self)
ss5624215799	NC_000001.10:114448388:C:G	NC_000001.11:113905766:C:G
ss87727671, ss108537950, ss275984945, ss284124240, ss479653415, ss491600656, ss1584969768, ss1712364521, ss2094847452, ss2635002502, ss3642790927	NC_000001.9:114249911:C:T	NC_000001.11:113905766:C:T	(self)
3282337, 1815974, 1295211, 4909055, 6680, 1672073, 755606, 102446, 789669, 1963339, 33572, 688934, 12585, 830908, 1703763, 454123, 3732166, 1815974, 393126, ss230698918, ss238355123, ss341983108, ss479658724, ss480172236, ss484625356, ss489758569, ss491298627, ss536747169, ss554595380, ss648324514, ss778397737, ss780890752, ss782759492, ss783577089, ss783725962, ss832011728, ss833852870, ss974436734, ss975588873, ss1067424583, ss1068206506, ss1292503838, ss1425942716, ss1574334585, ss1584010219, ss1601028211, ss1644022244, ss1685699056, ss1710916820, ss1751864649, ss1751864650, ss1917732907, ss1918788978, ss1946005637, ss1958304806, ss1966845571, ss2019918895, ss2094973009, ss2147937769, ss2624469130, ss2632565506, ss2697868101, ss2710680404, ss2731731520, ss2746399870, ss2759765648, ss2984871618, ss2985522547, ss2987468022, ss3021122848, ss3023056930, ss3343643338, ss3626187061, ss3626187062, ss3630599066, ss3632906818, ss3633601981, ss3634344170, ss3634344171, ss3635295513, ss3636022547, ss3637045984, ss3637781237, ss3640051529, ss3640051530, ss3644501605, ss3646235116, ss3651455671, ss3651455672, ss3653643655, ss3655556963, ss3727404069, ss3744350018, ss3744645118, ss3744645119, ss3746694022, ss3772146310, ss3772146311, ss3783524643, ss3789165625, ss3794038558, ss3823643816, ss3825518276, ss3825535338, ss3825572337, ss3826379308, ss3849686783, ss3894785945, ss3983941286, ss3983941287, ss3984463273, ss3986132138, ss5145762859, ss5314645213, ss5321297755, ss5506003140, ss5623995844, ss5624215799, ss5626333423, ss5799409767, ss5799496455, ss5832508100, ss5847551945, ss5848268517, ss5936511185, ss5938201324, ss5979979513	NC_000001.10:114448388:C:T	NC_000001.11:113905766:C:T	(self)
RCV001521544.3, RCV001521545.3, RCV001651069.2, 4222540, 23218774, 158574, 1662088, 55800, 4893258, 27847002, 10591416087, ss2165861507, ss3023724007, ss3687566113, ss3725056328, ss3770834331, ss3799696694, ss3945284087, ss4464240667, ss5236871949, ss5243671378, ss5444588672, ss5516696605, ss5671056154, ss5800947205, ss5849075143, ss5909872336	NC_000001.11:113905766:C:T	NC_000001.11:113905766:C:T	(self)
ss18071371	NT_019273.16:5444336:C:T	NC_000001.11:113905766:C:T	(self)
ss76889001	NT_019273.18:10356073:C:T	NC_000001.11:113905766:C:T	(self)
ss23851621, ss35072705, ss48429594, ss68778421, ss74815010, ss74887929, ss86349090, ss138063562, ss159698373, ss160026599, ss171795295	NT_032977.9:84420306:C:T	NC_000001.11:113905766:C:T	(self)

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

14 citations for rs11552449

PMID	Title	Author	Year	Journal
18505952	Genetic susceptibility to cancer: the role of polymorphisms in candidate genes.	Dong LM et al.	2008	JAMA
18805967	Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping.	Johnson DC et al.	2008	Blood
23535729	Large-scale genotyping identifies 41 new loci associated with breast cancer risk.	Michailidou K et al.	2013	Nature genetics
23535825	Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls.	Zheng W et al.	2013	Human molecular genetics
23593120	Evaluating genome-wide association study-identified breast cancer risk variants in African-American women.	Long J et al.	2013	PloS one
24025454	Hereditary breast cancer: ever more pieces to the polygenic puzzle.	Bogdanova N et al.	2013	Hereditary cancer in clinical practice
24359602	Common breast cancer risk variants in the post-COGS era: a comprehensive review.	Maxwell KN et al.	2013	Breast cancer research
24771903	Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis.	Fasching PA et al.	2013	Geburtshilfe und Frauenheilkunde
24941967	Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population.	Lee CP et al.	2014	Breast cancer research
26472073	Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors.	Caswell JL et al.	2015	Human molecular genetics
26510858	Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity.	Dorling L et al.	2016	Clinical cancer research
27392074	The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study.	Dorling L et al.	2016	PloS one
29382703	Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.	Lilyquist J et al.	2018	Cancer epidemiology, biomarkers & prevention
29727689	A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies.	Guo X et al.	2018	American journal of human genetics

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11552449