Name: rs10488
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.

rs10488

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:102797291 (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=0.082478 (21831/264690, TOPMED)
T=0.061925 (11554/186582, ALFA)
T=0.085159 (11939/140196, GnomAD) (+ 23 more)
T=0.058369 (7082/121332, ExAC)
T=0.00633 (179/28258, 14KJPN)
T=0.00710 (119/16758, 8.3KJPN)
T=0.08313 (1081/13004, GO-ESP)
T=0.0770 (493/6404, 1000G_30x)
T=0.0723 (362/5008, 1000G)
T=0.0915 (410/4480, Estonian)
T=0.0623 (240/3854, ALSPAC)
T=0.0666 (247/3708, TWINSUK)
T=0.0051 (15/2922, KOREAN)
T=0.0938 (176/1876, HapMap)
T=0.049 (49/998, GoNL)
T=0.024 (19/792, PRJEB37584)
T=0.025 (15/612, Vietnamese)
T=0.077 (46/600, NorthernSweden)
T=0.071 (38/534, MGP)
T=0.056 (17/304, FINRISK)
T=0.037 (8/216, Qatari)
C=0.50 (26/52, SGDP_PRJ)
T=0.50 (26/52, SGDP_PRJ)
T=0.05 (2/40, GENOME_DK)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MMP1 : Synonymous Variant
WTAPP1 : Intron Variant
Publications: 4 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	203016	C=0.936153	T=0.063847
European	Sub	168266	C=0.940933	T=0.059067
African	Sub	12142	C=0.85801	T=0.14199
African Others	Sub	434	C=0.836	T=0.164
African American	Sub	11708	C=0.85881	T=0.14119
Asian	Sub	686	C=0.993	T=0.007
East Asian	Sub	524	C=0.996	T=0.004
Other Asian	Sub	162	C=0.981	T=0.019
Latin American 1	Sub	1106	C=0.9150	T=0.0850
Latin American 2	Sub	6292	C=0.9509	T=0.0491
South Asian	Sub	184	C=0.967	T=0.033
Other	Sub	14340	C=0.93828	T=0.06172

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.917522	T=0.082478
Allele Frequency Aggregator	Total	Global	186582	C=0.938075	T=0.061925
Allele Frequency Aggregator	European	Sub	158122	C=0.940881	T=0.059119
Allele Frequency Aggregator	Other	Sub	12888	C=0.93940	T=0.06060
Allele Frequency Aggregator	African	Sub	7304	C=0.8616	T=0.1384
Allele Frequency Aggregator	Latin American 2	Sub	6292	C=0.9509	T=0.0491
Allele Frequency Aggregator	Latin American 1	Sub	1106	C=0.9150	T=0.0850
Allele Frequency Aggregator	Asian	Sub	686	C=0.993	T=0.007
Allele Frequency Aggregator	South Asian	Sub	184	C=0.967	T=0.033
gnomAD - Genomes	Global	Study-wide	140196	C=0.914841	T=0.085159
gnomAD - Genomes	European	Sub	75926	C=0.93461	T=0.06539
gnomAD - Genomes	African	Sub	42008	C=0.85679	T=0.14321
gnomAD - Genomes	American	Sub	13654	C=0.95371	T=0.04629
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9660	T=0.0340
gnomAD - Genomes	East Asian	Sub	3134	C=0.9860	T=0.0140
gnomAD - Genomes	Other	Sub	2152	C=0.9215	T=0.0785
ExAC	Global	Study-wide	121332	C=0.941631	T=0.058369
ExAC	Europe	Sub	73336	C=0.94079	T=0.05921
ExAC	Asian	Sub	25164	C=0.97123	T=0.02877
ExAC	American	Sub	11520	C=0.95755	T=0.04245
ExAC	African	Sub	10404	C=0.85698	T=0.14302
ExAC	Other	Sub	908	C=0.957	T=0.043
14KJPN	JAPANESE	Study-wide	28258	C=0.99367	T=0.00633
8.3KJPN	JAPANESE	Study-wide	16758	C=0.99290	T=0.00710
GO Exome Sequencing Project	Global	Study-wide	13004	C=0.91687	T=0.08313
GO Exome Sequencing Project	European American	Sub	8598	C=0.9448	T=0.0552
GO Exome Sequencing Project	African American	Sub	4406	C=0.8625	T=0.1375
1000Genomes_30x	Global	Study-wide	6404	C=0.9230	T=0.0770
1000Genomes_30x	African	Sub	1786	C=0.8281	T=0.1719
1000Genomes_30x	Europe	Sub	1266	C=0.9344	T=0.0656
1000Genomes_30x	South Asian	Sub	1202	C=0.9700	T=0.0300
1000Genomes_30x	East Asian	Sub	1170	C=0.9821	T=0.0179
1000Genomes_30x	American	Sub	980	C=0.953	T=0.047
1000Genomes	Global	Study-wide	5008	C=0.9277	T=0.0723
1000Genomes	African	Sub	1322	C=0.8374	T=0.1626
1000Genomes	East Asian	Sub	1008	C=0.9812	T=0.0188
1000Genomes	Europe	Sub	1006	C=0.9324	T=0.0676
1000Genomes	South Asian	Sub	978	C=0.971	T=0.029
1000Genomes	American	Sub	694	C=0.954	T=0.046
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9085	T=0.0915
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9377	T=0.0623
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9334	T=0.0666
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9949	T=0.0051
HapMap	Global	Study-wide	1876	C=0.9062	T=0.0938
HapMap	American	Sub	766	C=0.939	T=0.061
HapMap	African	Sub	686	C=0.831	T=0.169
HapMap	Asian	Sub	250	C=0.980	T=0.020
HapMap	Europe	Sub	174	C=0.954	T=0.046
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.951	T=0.049
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.976	T=0.024
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.976	T=0.024
A Vietnamese Genetic Variation Database	Global	Study-wide	612	C=0.975	T=0.025
Northern Sweden	ACPOP	Study-wide	600	C=0.923	T=0.077
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.929	T=0.071
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.944	T=0.056
Qatari	Global	Study-wide	216	C=0.963	T=0.037
SGDP_PRJ	Global	Study-wide	52	C=0.50	T=0.50
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
Siberian	Global	Study-wide	2	C=0.5	T=0.5

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 11	NC_000011.10:g.102797291C>G
GRCh38.p14 chr 11	NC_000011.10:g.102797291C>T
GRCh37.p13 chr 11	NC_000011.9:g.102668022C>G
GRCh37.p13 chr 11	NC_000011.9:g.102668022C>T
MMP1 RefSeqGene	NG_011740.2:g.5945G>C
MMP1 RefSeqGene	NG_011740.2:g.5945G>A

Gene: MMP1, matrix metallopeptidase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MMP1 transcript variant 1	NM_002421.4:c.315G>C	G [GGG] > G [GGC]	Coding Sequence Variant
interstitial collagenase isoform 1 preproprotein	NP_002412.1:p.Gly105=	G (Gly) > G (Gly)	Synonymous Variant
MMP1 transcript variant 1	NM_002421.4:c.315G>A	G [GGG] > G [GGA]	Coding Sequence Variant
interstitial collagenase isoform 1 preproprotein	NP_002412.1:p.Gly105=	G (Gly) > G (Gly)	Synonymous Variant
MMP1 transcript variant 2	NM_001145938.2:c.117G>C	G [GGG] > G [GGC]	Coding Sequence Variant
interstitial collagenase isoform 2	NP_001139410.1:p.Gly39=	G (Gly) > G (Gly)	Synonymous Variant
MMP1 transcript variant 2	NM_001145938.2:c.117G>A	G [GGG] > G [GGA]	Coding Sequence Variant
interstitial collagenase isoform 2	NP_001139410.1:p.Gly39=	G (Gly) > G (Gly)	Synonymous Variant

Gene: WTAPP1, Wilms tumor 1 associated protein pseudogene 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
WTAPP1 transcript	NR_038390.1:n.	N/A	Intron 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: 389961 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000454871.3	not specified	Benign
RCV001653799.2	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 11	NC_000011.10:g.102797291=	NC_000011.10:g.102797291C>G	NC_000011.10:g.102797291C>T
GRCh37.p13 chr 11	NC_000011.9:g.102668022=	NC_000011.9:g.102668022C>G	NC_000011.9:g.102668022C>T
MMP1 RefSeqGene	NG_011740.2:g.5945=	NG_011740.2:g.5945G>C	NG_011740.2:g.5945G>A
MMP1 transcript variant 1	NM_002421.4:c.315=	NM_002421.4:c.315G>C	NM_002421.4:c.315G>A
MMP1 transcript variant 1	NM_002421.3:c.315=	NM_002421.3:c.315G>C	NM_002421.3:c.315G>A
MMP1 transcript variant 2	NM_001145938.2:c.117=	NM_001145938.2:c.117G>C	NM_001145938.2:c.117G>A
MMP1 transcript variant 2	NM_001145938.1:c.117=	NM_001145938.1:c.117G>C	NM_001145938.1:c.117G>A
interstitial collagenase isoform 1 preproprotein	NP_002412.1:p.Gly105=	NP_002412.1:p.Gly105=	NP_002412.1:p.Gly105=
interstitial collagenase isoform 2	NP_001139410.1:p.Gly39=	NP_001139410.1:p.Gly39=	NP_001139410.1:p.Gly39=

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#.

117 SubSNP, 26 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2425889	Nov 14, 2000 (102)
2	LEE	ss4394811	May 29, 2002 (108)
3	SNP500CANCER	ss6903870	Mar 31, 2003 (113)
4	EGP_SNPS	ss28532313	Dec 02, 2004 (126)
5	SI_EXO	ss52067443	Oct 14, 2006 (127)
6	SHGC	ss66539140	Nov 29, 2006 (127)
7	EGP_SNPS	ss66859321	Nov 29, 2006 (127)
8	ILLUMINA	ss74967389	Dec 07, 2007 (129)
9	CGM_KYOTO	ss76873973	Dec 07, 2007 (129)
10	HGSV	ss78727013	Dec 07, 2007 (129)
11	KRIBB_YJKIM	ss80728739	Dec 15, 2007 (130)
12	CANCER-GENOME	ss86351425	Mar 23, 2008 (129)
13	1000GENOMES	ss115086259	Jan 25, 2009 (130)
14	KRIBB_YJKIM	ss119338754	Dec 01, 2009 (131)
15	ILLUMINA-UK	ss119948413	Dec 01, 2009 (131)
16	SEATTLESEQ	ss159724629	Dec 01, 2009 (131)
17	ILLUMINA	ss159899455	Dec 01, 2009 (131)
18	ILLUMINA	ss170164032	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss170782962	Jul 04, 2010 (132)
20	BUSHMAN	ss203136947	Jul 04, 2010 (132)
21	1000GENOMES	ss225429849	Jul 14, 2010 (132)
22	1000GENOMES	ss235695934	Jul 15, 2010 (132)
23	ILLUMINA	ss244269161	Jul 04, 2010 (132)
24	BL	ss255362006	May 09, 2011 (134)
25	GMI	ss286445784	Apr 25, 2013 (138)
26	NHLBI-ESP	ss342339081	May 09, 2011 (134)
27	ILLUMINA	ss479283265	May 04, 2012 (137)
28	ILLUMINA	ss479286293	May 04, 2012 (137)
29	ILLUMINA	ss479663763	Sep 08, 2015 (146)
30	ILLUMINA	ss484442160	May 04, 2012 (137)
31	1000GENOMES	ss491027907	May 04, 2012 (137)
32	CLINSEQ_SNP	ss491653092	May 04, 2012 (137)
33	ILLUMINA	ss536436619	Sep 08, 2015 (146)
34	TISHKOFF	ss562787869	Apr 25, 2013 (138)
35	SSMP	ss658310546	Apr 25, 2013 (138)
36	ILLUMINA	ss778733105	Aug 21, 2014 (142)
37	ILLUMINA	ss782667569	Aug 21, 2014 (142)
38	ILLUMINA	ss783636331	Aug 21, 2014 (142)
39	ILLUMINA	ss831918189	Apr 01, 2015 (144)
40	ILLUMINA	ss834192618	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss974480932	Aug 21, 2014 (142)
42	EVA-GONL	ss988900393	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1067527651	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1077999350	Aug 21, 2014 (142)
45	1000GENOMES	ss1342729129	Aug 21, 2014 (142)
46	EVA_GENOME_DK	ss1575917016	Apr 01, 2015 (144)
47	EVA_FINRISK	ss1584077710	Apr 01, 2015 (144)
48	EVA_DECODE	ss1598564563	Apr 01, 2015 (144)
49	EVA_UK10K_ALSPAC	ss1627334067	Apr 01, 2015 (144)
50	EVA_UK10K_TWINSUK	ss1670328100	Apr 01, 2015 (144)
51	EVA_EXAC	ss1690607862	Apr 01, 2015 (144)
52	EVA_MGP	ss1711306834	Apr 01, 2015 (144)
53	EVA_SVP	ss1713280397	Apr 01, 2015 (144)
54	ILLUMINA	ss1751991141	Sep 08, 2015 (146)
55	WEILL_CORNELL_DGM	ss1932263052	Feb 12, 2016 (147)
56	JJLAB	ss2026875958	Sep 14, 2016 (149)
57	USC_VALOUEV	ss2155187790	Dec 20, 2016 (150)
58	HUMAN_LONGEVITY	ss2185209630	Dec 20, 2016 (150)
59	SYSTEMSBIOZJU	ss2627911231	Nov 08, 2017 (151)
60	ILLUMINA	ss2632880469	Nov 08, 2017 (151)
61	ILLUMINA	ss2635029817	Nov 08, 2017 (151)
62	GNOMAD	ss2739349051	Nov 08, 2017 (151)
63	GNOMAD	ss2748728052	Nov 08, 2017 (151)
64	GNOMAD	ss2903785276	Nov 08, 2017 (151)
65	AFFY	ss2984954919	Nov 08, 2017 (151)
66	SWEGEN	ss3008686750	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3027236770	Nov 08, 2017 (151)
68	CSHL	ss3349767659	Nov 08, 2017 (151)
69	ILLUMINA	ss3626737889	Oct 12, 2018 (152)
70	ILLUMINA	ss3630895115	Oct 12, 2018 (152)
71	ILLUMINA	ss3632997540	Oct 12, 2018 (152)
72	ILLUMINA	ss3633697433	Oct 12, 2018 (152)
73	ILLUMINA	ss3634472656	Oct 12, 2018 (152)
74	ILLUMINA	ss3635388761	Oct 12, 2018 (152)
75	ILLUMINA	ss3636156722	Oct 12, 2018 (152)
76	ILLUMINA	ss3637139659	Oct 12, 2018 (152)
77	ILLUMINA	ss3637927229	Oct 12, 2018 (152)
78	ILLUMINA	ss3640179993	Oct 12, 2018 (152)
79	ILLUMINA	ss3642924002	Oct 12, 2018 (152)
80	OMUKHERJEE_ADBS	ss3646432123	Oct 12, 2018 (152)
81	ILLUMINA	ss3653727535	Oct 12, 2018 (152)
82	EGCUT_WGS	ss3676008292	Jul 13, 2019 (153)
83	EVA_DECODE	ss3692485021	Jul 13, 2019 (153)
84	ACPOP	ss3738490178	Jul 13, 2019 (153)
85	ILLUMINA	ss3744773447	Jul 13, 2019 (153)
86	EVA	ss3749738587	Jul 13, 2019 (153)
87	ILLUMINA	ss3772273229	Jul 13, 2019 (153)
88	KHV_HUMAN_GENOMES	ss3815071837	Jul 13, 2019 (153)
89	EVA	ss3824666167	Apr 26, 2020 (154)
90	EVA	ss3825808074	Apr 26, 2020 (154)
91	EVA	ss3832809189	Apr 26, 2020 (154)
92	SGDP_PRJ	ss3877017733	Apr 26, 2020 (154)
93	KRGDB	ss3925459253	Apr 26, 2020 (154)
94	FSA-LAB	ss3984012246	Apr 26, 2021 (155)
95	EVA	ss3984656358	Apr 26, 2021 (155)
96	EVA	ss3986056511	Apr 26, 2021 (155)
97	EVA	ss3986543193	Apr 26, 2021 (155)
98	TOPMED	ss4897873593	Apr 26, 2021 (155)
99	TOMMO_GENOMICS	ss5203626610	Apr 26, 2021 (155)
100	EVA	ss5236899144	Apr 26, 2021 (155)
101	EVA	ss5237658372	Oct 16, 2022 (156)
102	1000G_HIGH_COVERAGE	ss5288696911	Oct 16, 2022 (156)
103	TRAN_CS_UWATERLOO	ss5314433036	Oct 16, 2022 (156)
104	EVA	ss5315572954	Oct 16, 2022 (156)
105	EVA	ss5401868166	Oct 16, 2022 (156)
106	HUGCELL_USP	ss5483705956	Oct 16, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5585076842	Oct 16, 2022 (156)
108	SANFORD_IMAGENETICS	ss5651956195	Oct 16, 2022 (156)
109	TOMMO_GENOMICS	ss5751998951	Oct 16, 2022 (156)
110	EVA	ss5799852829	Oct 16, 2022 (156)
111	EVA	ss5800171444	Oct 16, 2022 (156)
112	YY_MCH	ss5812727492	Oct 16, 2022 (156)
113	EVA	ss5837148390	Oct 16, 2022 (156)
114	EVA	ss5848335825	Oct 16, 2022 (156)
115	EVA	ss5850125989	Oct 16, 2022 (156)
116	EVA	ss5921418166	Oct 16, 2022 (156)
117	EVA	ss5943278243	Oct 16, 2022 (156)
118	1000Genomes	NC_000011.9 - 102668022	Oct 12, 2018 (152)
119	1000Genomes_30x	NC_000011.10 - 102797291	Oct 16, 2022 (156)
120	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 102668022	Oct 12, 2018 (152)
121	Genetic variation in the Estonian population	NC_000011.9 - 102668022	Oct 12, 2018 (152)
122	ExAC	NC_000011.9 - 102668022	Oct 12, 2018 (152)
123	FINRISK	NC_000011.9 - 102668022	Apr 26, 2020 (154)
124	The Danish reference pan genome	NC_000011.9 - 102668022	Apr 26, 2020 (154)
125	gnomAD - Genomes	NC_000011.10 - 102797291	Apr 26, 2021 (155)
126	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8566717 (NC_000011.9:102668021:C:C 251137/251138, NC_000011.9:102668021:C:G 1/251138) Row 8566718 (NC_000011.9:102668021:C:C 236868/251138, NC_000011.9:102668021:C:T 14270/251138)	-	Jul 13, 2019 (153)
127	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8566717 (NC_000011.9:102668021:C:C 251137/251138, NC_000011.9:102668021:C:G 1/251138) Row 8566718 (NC_000011.9:102668021:C:C 236868/251138, NC_000011.9:102668021:C:T 14270/251138)	-	Jul 13, 2019 (153)
128	GO Exome Sequencing Project	NC_000011.9 - 102668022	Oct 12, 2018 (152)
129	Genome of the Netherlands Release 5	NC_000011.9 - 102668022	Apr 26, 2020 (154)
130	HapMap	NC_000011.10 - 102797291	Apr 26, 2020 (154)
131	KOREAN population from KRGDB	NC_000011.9 - 102668022	Apr 26, 2020 (154)
132	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 102668022	Apr 26, 2020 (154)
133	Northern Sweden	NC_000011.9 - 102668022	Jul 13, 2019 (153)
134	CNV burdens in cranial meningiomas	NC_000011.9 - 102668022	Apr 26, 2021 (155)
135	Qatari	NC_000011.9 - 102668022	Apr 26, 2020 (154)
136	SGDP_PRJ	NC_000011.9 - 102668022	Apr 26, 2020 (154)
137	Siberian	NC_000011.9 - 102668022	Apr 26, 2020 (154)
138	8.3KJPN	NC_000011.9 - 102668022	Apr 26, 2021 (155)
139	14KJPN	NC_000011.10 - 102797291	Oct 16, 2022 (156)
140	TopMed	NC_000011.10 - 102797291	Apr 26, 2021 (155)
141	UK 10K study - Twins	NC_000011.9 - 102668022	Oct 12, 2018 (152)
142	A Vietnamese Genetic Variation Database	NC_000011.9 - 102668022	Jul 13, 2019 (153)
143	ALFA	NC_000011.10 - 102797291	Apr 26, 2021 (155)
144	ClinVar	RCV000454871.3	Oct 16, 2022 (156)
145	ClinVar	RCV001653799.2	Oct 16, 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)
rs1051119	Jan 04, 2002 (102)
rs1804987	Jan 18, 2001 (92)
rs3168235	Oct 08, 2002 (108)
rs4987187	Apr 07, 2003 (113)
rs17885238	May 23, 2006 (127)
rs59349997	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2739349051	NC_000011.9:102668021:C:G	NC_000011.10:102797290:C:G	(self)
ss78727013, ss115086259, ss119948413, ss170782962, ss203136947, ss255362006, ss286445784, ss479283265, ss491653092, ss1598564563, ss1713280397, ss2635029817, ss3642924002	NC_000011.8:102173231:C:T	NC_000011.10:102797290:C:T	(self)
55302297, 30690497, 21746540, 881625, 74171, 2711223, 1123713, 13698644, 32636647, 422594, 11775043, 205842, 14304982, 29034713, 7704144, 61595917, 30690497, 6811522, ss225429849, ss235695934, ss342339081, ss479286293, ss479663763, ss484442160, ss491027907, ss536436619, ss562787869, ss658310546, ss778733105, ss782667569, ss783636331, ss831918189, ss834192618, ss974480932, ss988900393, ss1067527651, ss1077999350, ss1342729129, ss1575917016, ss1584077710, ss1627334067, ss1670328100, ss1690607862, ss1711306834, ss1751991141, ss1932263052, ss2026875958, ss2155187790, ss2627911231, ss2632880469, ss2739349051, ss2748728052, ss2903785276, ss2984954919, ss3008686750, ss3349767659, ss3626737889, ss3630895115, ss3632997540, ss3633697433, ss3634472656, ss3635388761, ss3636156722, ss3637139659, ss3637927229, ss3640179993, ss3646432123, ss3653727535, ss3676008292, ss3738490178, ss3744773447, ss3749738587, ss3772273229, ss3824666167, ss3825808074, ss3832809189, ss3877017733, ss3925459253, ss3984012246, ss3984656358, ss3986056511, ss3986543193, ss5203626610, ss5315572954, ss5401868166, ss5651956195, ss5799852829, ss5800171444, ss5837148390, ss5848335825, ss5943278243	NC_000011.9:102668021:C:T	NC_000011.10:102797290:C:T	(self)
RCV000454871.3, RCV001653799.2, 72602777, 390238899, 685226, 85836055, 113419249, 203281847, ss2185209630, ss3027236770, ss3692485021, ss3815071837, ss4897873593, ss5236899144, ss5237658372, ss5288696911, ss5314433036, ss5483705956, ss5585076842, ss5751998951, ss5812727492, ss5850125989, ss5921418166	NC_000011.10:102797290:C:T	NC_000011.10:102797290:C:T	(self)
ss52067443	NT_033899.7:6230437:C:T	NC_000011.10:102797290:C:T	(self)
ss2425889, ss4394811, ss6903870, ss28532313, ss66539140, ss66859321, ss74967389, ss76873973, ss80728739, ss86351425, ss119338754, ss159724629, ss159899455, ss170164032, ss244269161	NT_033899.8:6230437:C:T	NC_000011.10:102797290:C:T	(self)

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

4 citations for rs10488

PMID	Title	Author	Year	Journal
19692168	Genetic susceptibility to distinct bladder cancer subphenotypes.	Guey LT et al.	2010	European urology
20078883	Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.	Haq I et al.	2010	BMC medical genetics
22993337	Association of matrix metalloproteinase-1 polymorphisms with risk of COPD and lung cancer and survival in lung cancer.	Enewold L et al.	2012	Anticancer research
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical 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
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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10488