Name: rs2511989
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.

rs2511989

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:57610852 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.385145 (101944/264690, TOPMED)
T=0.392674 (54965/139976, GnomAD)
T=0.39763 (34265/86174, ALFA) (+ 21 more)
T=0.35834 (28199/78694, PAGE_STUDY)
T=0.15033 (4248/28258, 14KJPN)
T=0.14954 (2506/16758, 8.3KJPN)
T=0.3385 (2168/6404, 1000G_30x)
T=0.3339 (1672/5008, 1000G)
T=0.3714 (1664/4480, Estonian)
T=0.4242 (1635/3854, ALSPAC)
T=0.4248 (1575/3708, TWINSUK)
T=0.1549 (454/2930, KOREAN)
T=0.2802 (584/2084, HGDP_Stanford)
T=0.3444 (651/1890, HapMap)
T=0.1550 (284/1832, Korea1K)
T=0.438 (437/998, GoNL)
T=0.331 (207/626, Chileans)
T=0.337 (202/600, NorthernSweden)
C=0.416 (114/274, SGDP_PRJ)
T=0.394 (85/216, Qatari)
T=0.39 (28/72, Ancient Sardinia)
T=0.45 (18/40, GENOME_DK)
C=0.50 (9/18, Siberian)
T=0.50 (9/18, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPING1 : Intron Variant
Publications: 15 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	86268	C=0.60244	T=0.39756
European	Sub	66430	C=0.59535	T=0.40465
African	Sub	8268	C=0.5813	T=0.4187
African Others	Sub	266	C=0.571	T=0.429
African American	Sub	8002	C=0.5816	T=0.4184
Asian	Sub	272	C=0.816	T=0.184
East Asian	Sub	198	C=0.823	T=0.177
Other Asian	Sub	74	C=0.80	T=0.20
Latin American 1	Sub	398	C=0.616	T=0.384
Latin American 2	Sub	3386	C=0.6952	T=0.3048
South Asian	Sub	4962	C=0.6330	T=0.3670
Other	Sub	2552	C=0.6481	T=0.3519

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=0.614855	T=0.385145
gnomAD - Genomes	Global	Study-wide	139976	C=0.607326	T=0.392674
gnomAD - Genomes	European	Sub	75816	C=0.59585	T=0.40415
gnomAD - Genomes	African	Sub	41922	C=0.58044	T=0.41956
gnomAD - Genomes	American	Sub	13636	C=0.65672	T=0.34328
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.7452	T=0.2548
gnomAD - Genomes	East Asian	Sub	3128	C=0.8724	T=0.1276
gnomAD - Genomes	Other	Sub	2150	C=0.6242	T=0.3758
Allele Frequency Aggregator	Total	Global	86174	C=0.60237	T=0.39763
Allele Frequency Aggregator	European	Sub	66354	C=0.59526	T=0.40474
Allele Frequency Aggregator	African	Sub	8268	C=0.5813	T=0.4187
Allele Frequency Aggregator	South Asian	Sub	4962	C=0.6330	T=0.3670
Allele Frequency Aggregator	Latin American 2	Sub	3386	C=0.6952	T=0.3048
Allele Frequency Aggregator	Other	Sub	2534	C=0.6484	T=0.3516
Allele Frequency Aggregator	Latin American 1	Sub	398	C=0.616	T=0.384
Allele Frequency Aggregator	Asian	Sub	272	C=0.816	T=0.184
The PAGE Study	Global	Study-wide	78694	C=0.64166	T=0.35834
The PAGE Study	AfricanAmerican	Sub	32514	C=0.57846	T=0.42154
The PAGE Study	Mexican	Sub	10808	C=0.69254	T=0.30746
The PAGE Study	Asian	Sub	8318	C=0.8553	T=0.1447
The PAGE Study	PuertoRican	Sub	7916	C=0.6014	T=0.3986
The PAGE Study	NativeHawaiian	Sub	4534	C=0.6877	T=0.3123
The PAGE Study	Cuban	Sub	4230	C=0.6061	T=0.3939
The PAGE Study	Dominican	Sub	3826	C=0.6077	T=0.3923
The PAGE Study	CentralAmerican	Sub	2450	C=0.6861	T=0.3139
The PAGE Study	SouthAmerican	Sub	1982	C=0.6645	T=0.3355
The PAGE Study	NativeAmerican	Sub	1260	C=0.6151	T=0.3849
The PAGE Study	SouthAsian	Sub	856	C=0.639	T=0.361
14KJPN	JAPANESE	Study-wide	28258	C=0.84967	T=0.15033
8.3KJPN	JAPANESE	Study-wide	16758	C=0.85046	T=0.14954
1000Genomes_30x	Global	Study-wide	6404	C=0.6615	T=0.3385
1000Genomes_30x	African	Sub	1786	C=0.6036	T=0.3964
1000Genomes_30x	Europe	Sub	1266	C=0.5861	T=0.4139
1000Genomes_30x	South Asian	Sub	1202	C=0.6223	T=0.3777
1000Genomes_30x	East Asian	Sub	1170	C=0.8598	T=0.1402
1000Genomes_30x	American	Sub	980	C=0.676	T=0.324
1000Genomes	Global	Study-wide	5008	C=0.6661	T=0.3339
1000Genomes	African	Sub	1322	C=0.5983	T=0.4017
1000Genomes	East Asian	Sub	1008	C=0.8611	T=0.1389
1000Genomes	Europe	Sub	1006	C=0.5934	T=0.4066
1000Genomes	South Asian	Sub	978	C=0.624	T=0.376
1000Genomes	American	Sub	694	C=0.677	T=0.323
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6286	T=0.3714
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5758	T=0.4242
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5752	T=0.4248
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8451	T=0.1549
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7198	T=0.2802
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.887	T=0.113
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.691	T=0.309
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.643	T=0.357
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.591	T=0.409
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.583	T=0.417
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.861	T=0.139
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.78	T=0.22
HapMap	Global	Study-wide	1890	C=0.6556	T=0.3444
HapMap	American	Sub	770	C=0.656	T=0.344
HapMap	African	Sub	690	C=0.594	T=0.406
HapMap	Asian	Sub	254	C=0.846	T=0.154
HapMap	Europe	Sub	176	C=0.619	T=0.381
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8450	T=0.1550
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.562	T=0.438
Chileans	Chilean	Study-wide	626	C=0.669	T=0.331
Northern Sweden	ACPOP	Study-wide	600	C=0.663	T=0.337
SGDP_PRJ	Global	Study-wide	274	C=0.416	T=0.584
Qatari	Global	Study-wide	216	C=0.606	T=0.394
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	72	C=0.61	T=0.39
The Danish reference pan genome	Danish	Study-wide	40	C=0.55	T=0.45
Siberian	Global	Study-wide	18	C=0.50	T=0.50

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.57610852C>T
GRCh37.p13 chr 11	NC_000011.9:g.57378325C>T
SERPING1 RefSeqGene (LRG_105)	NG_009625.1:g.18299C>T

Gene: SERPING1, serpin family G member 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SERPING1 transcript variant 1	NM_000062.3:c.1030-865C>T	N/A	Intron Variant
SERPING1 transcript variant 2	NM_001032295.2:c.1030-865… NM_001032295.2:c.1030-865C>T	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: 971326 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001263115.1	Hereditary angioedema type 1	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=	T
GRCh38.p14 chr 11	NC_000011.10:g.57610852=	NC_000011.10:g.57610852C>T
GRCh37.p13 chr 11	NC_000011.9:g.57378325=	NC_000011.9:g.57378325C>T
SERPING1 RefSeqGene (LRG_105)	NG_009625.1:g.18299=	NG_009625.1:g.18299C>T
SERPING1 transcript variant 1	NM_000062.2:c.1030-865=	NM_000062.2:c.1030-865C>T
SERPING1 transcript variant 1	NM_000062.3:c.1030-865=	NM_000062.3:c.1030-865C>T
SERPING1 transcript variant 2	NM_001032295.1:c.1030-865=	NM_001032295.1:c.1030-865C>T
SERPING1 transcript variant 2	NM_001032295.2:c.1030-865=	NM_001032295.2:c.1030-865C>T
SERPING1 transcript variant X1	XM_005274204.1:c.1045-865=	XM_005274204.1:c.1045-865C>T
SERPING1 transcript variant X2	XM_005274205.1:c.1030-865=	XM_005274205.1:c.1030-865C>T

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#.

109 SubSNP, 23 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3521711	Sep 28, 2001 (100)
2	SC_SNP	ss15913751	Feb 27, 2004 (120)
3	PERLEGEN	ss23741447	Sep 20, 2004 (123)
4	ABI	ss39990690	Mar 13, 2006 (126)
5	ILLUMINA	ss67258553	Nov 30, 2006 (127)
6	ILLUMINA	ss67657304	Nov 30, 2006 (127)
7	ILLUMINA	ss68206556	Dec 12, 2006 (127)
8	PERLEGEN	ss69318162	May 17, 2007 (127)
9	ILLUMINA	ss70736925	May 23, 2008 (130)
10	ILLUMINA	ss71307243	May 17, 2007 (127)
11	ILLUMINA	ss75531461	Dec 06, 2007 (129)
12	AFFY	ss76731292	Dec 08, 2007 (130)
13	HGSV	ss78425315	Dec 06, 2007 (129)
14	KRIBB_YJKIM	ss84055311	Dec 14, 2007 (130)
15	BCMHGSC_JDW	ss88602336	Mar 23, 2008 (129)
16	HUMANGENOME_JCVI	ss97481336	Feb 04, 2009 (130)
17	1000GENOMES	ss110518060	Jan 24, 2009 (130)
18	1000GENOMES	ss114654666	Jan 25, 2009 (130)
19	ILLUMINA-UK	ss119850995	Dec 01, 2009 (131)
20	ENSEMBL	ss132573655	Dec 01, 2009 (131)
21	ENSEMBL	ss143803173	Dec 01, 2009 (131)
22	ILLUMINA	ss153917118	Dec 01, 2009 (131)
23	GMI	ss156351834	Dec 01, 2009 (131)
24	ILLUMINA	ss159394847	Dec 01, 2009 (131)
25	COMPLETE_GENOMICS	ss168422356	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss169987988	Jul 04, 2010 (132)
27	ILLUMINA	ss173375993	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss175146251	Jul 04, 2010 (132)
29	BUSHMAN	ss202752557	Jul 04, 2010 (132)
30	1000GENOMES	ss225260422	Jul 14, 2010 (132)
31	1000GENOMES	ss235574524	Jul 15, 2010 (132)
32	1000GENOMES	ss242202789	Jul 15, 2010 (132)
33	ILLUMINA	ss244290882	Jul 04, 2010 (132)
34	GMI	ss281023897	May 04, 2012 (137)
35	GMI	ss286388805	Apr 25, 2013 (138)
36	PJP	ss291052394	May 09, 2011 (134)
37	ILLUMINA	ss537099030	Sep 08, 2015 (146)
38	TISHKOFF	ss562580817	Apr 25, 2013 (138)
39	SSMP	ss658088513	Apr 25, 2013 (138)
40	ILLUMINA	ss832906581	Jul 13, 2019 (153)
41	EVA-GONL	ss988557572	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1077756493	Aug 21, 2014 (142)
43	1000GENOMES	ss1341407906	Aug 21, 2014 (142)
44	DDI	ss1426644420	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1575734726	Apr 01, 2015 (144)
46	EVA_DECODE	ss1598220313	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1626660377	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1669654410	Apr 01, 2015 (144)
49	EVA_SVP	ss1713256759	Apr 01, 2015 (144)
50	HAMMER_LAB	ss1806831740	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1931917763	Feb 12, 2016 (147)
52	ILLUMINA	ss1959350770	Feb 12, 2016 (147)
53	GENOMED	ss1967370196	Jul 19, 2016 (147)
54	JJLAB	ss2026705739	Sep 14, 2016 (149)
55	USC_VALOUEV	ss2155007334	Dec 20, 2016 (150)
56	HUMAN_LONGEVITY	ss2182610498	Dec 20, 2016 (150)
57	SYSTEMSBIOZJU	ss2627825273	Nov 08, 2017 (151)
58	GRF	ss2699294945	Nov 08, 2017 (151)
59	GNOMAD	ss2900030437	Nov 08, 2017 (151)
60	AFFY	ss2984943012	Nov 08, 2017 (151)
61	AFFY	ss2985587331	Nov 08, 2017 (151)
62	SWEGEN	ss3008150077	Nov 08, 2017 (151)
63	ILLUMINA	ss3021337522	Nov 08, 2017 (151)
64	BIOINF_KMB_FNS_UNIBA	ss3027151680	Nov 08, 2017 (151)
65	CSHL	ss3349617383	Nov 08, 2017 (151)
66	ILLUMINA	ss3626664152	Oct 12, 2018 (152)
67	ILLUMINA	ss3637908096	Oct 12, 2018 (152)
68	ILLUMINA	ss3638969034	Oct 12, 2018 (152)
69	ILLUMINA	ss3639795731	Oct 12, 2018 (152)
70	ILLUMINA	ss3642906445	Oct 12, 2018 (152)
71	ILLUMINA	ss3643847859	Oct 12, 2018 (152)
72	URBANLAB	ss3649618876	Oct 12, 2018 (152)
73	ILLUMINA	ss3651701486	Oct 12, 2018 (152)
74	ILLUMINA	ss3653715300	Oct 12, 2018 (152)
75	EGCUT_WGS	ss3675489416	Jul 13, 2019 (153)
76	EVA_DECODE	ss3691852121	Jul 13, 2019 (153)
77	ILLUMINA	ss3725242305	Jul 13, 2019 (153)
78	ACPOP	ss3738209684	Jul 13, 2019 (153)
79	EVA	ss3749337696	Jul 13, 2019 (153)
80	PAGE_CC	ss3771625426	Jul 13, 2019 (153)
81	PACBIO	ss3786963565	Jul 13, 2019 (153)
82	PACBIO	ss3792104154	Jul 13, 2019 (153)
83	PACBIO	ss3796986497	Jul 13, 2019 (153)
84	KHV_HUMAN_GENOMES	ss3814683844	Jul 13, 2019 (153)
85	EVA	ss3832646420	Apr 26, 2020 (154)
86	EVA	ss3839881018	Apr 26, 2020 (154)
87	EVA	ss3845360200	Apr 26, 2020 (154)
88	HGDP	ss3847419454	Apr 26, 2020 (154)
89	SGDP_PRJ	ss3876328240	Apr 26, 2020 (154)
90	KRGDB	ss3924681056	Apr 26, 2020 (154)
91	KOGIC	ss3969957374	Apr 26, 2020 (154)
92	EVA	ss3985535669	Apr 26, 2021 (155)
93	EVA	ss4017539009	Apr 26, 2021 (155)
94	TOPMED	ss4886398124	Apr 26, 2021 (155)
95	TOMMO_GENOMICS	ss5202125743	Apr 26, 2021 (155)
96	1000G_HIGH_COVERAGE	ss5287534506	Oct 16, 2022 (156)
97	EVA	ss5399782371	Oct 16, 2022 (156)
98	HUGCELL_USP	ss5482703087	Oct 16, 2022 (156)
99	1000G_HIGH_COVERAGE	ss5583318736	Oct 16, 2022 (156)
100	SANFORD_IMAGENETICS	ss5624275386	Oct 16, 2022 (156)
101	SANFORD_IMAGENETICS	ss5651291892	Oct 16, 2022 (156)
102	TOMMO_GENOMICS	ss5750045804	Oct 16, 2022 (156)
103	YY_MCH	ss5812443823	Oct 16, 2022 (156)
104	EVA	ss5836706693	Oct 16, 2022 (156)
105	EVA	ss5847391405	Oct 16, 2022 (156)
106	EVA	ss5849992732	Oct 16, 2022 (156)
107	EVA	ss5920108377	Oct 16, 2022 (156)
108	EVA	ss5942604195	Oct 16, 2022 (156)
109	EVA	ss5979359298	Oct 16, 2022 (156)
110	1000Genomes	NC_000011.9 - 57378325	Oct 12, 2018 (152)
111	1000Genomes_30x	NC_000011.10 - 57610852	Oct 16, 2022 (156)
112	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 57378325	Oct 12, 2018 (152)
113	Chileans	NC_000011.9 - 57378325	Apr 26, 2020 (154)
114	Genetic variation in the Estonian population	NC_000011.9 - 57378325	Oct 12, 2018 (152)
115	The Danish reference pan genome	NC_000011.9 - 57378325	Apr 26, 2020 (154)
116	gnomAD - Genomes	NC_000011.10 - 57610852	Apr 26, 2021 (155)
117	Genome of the Netherlands Release 5	NC_000011.9 - 57378325	Apr 26, 2020 (154)
118	HGDP-CEPH-db Supplement 1	NC_000011.8 - 57134901	Apr 26, 2020 (154)
119	HapMap	NC_000011.10 - 57610852	Apr 26, 2020 (154)
120	KOREAN population from KRGDB	NC_000011.9 - 57378325	Apr 26, 2020 (154)
121	Korean Genome Project	NC_000011.10 - 57610852	Apr 26, 2020 (154)
122	Northern Sweden	NC_000011.9 - 57378325	Jul 13, 2019 (153)
123	The PAGE Study	NC_000011.10 - 57610852	Jul 13, 2019 (153)
124	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 57378325	Apr 26, 2021 (155)
125	Qatari	NC_000011.9 - 57378325	Apr 26, 2020 (154)
126	SGDP_PRJ	NC_000011.9 - 57378325	Apr 26, 2020 (154)
127	Siberian	NC_000011.9 - 57378325	Apr 26, 2020 (154)
128	8.3KJPN	NC_000011.9 - 57378325	Apr 26, 2021 (155)
129	14KJPN	NC_000011.10 - 57610852	Oct 16, 2022 (156)
130	TopMed	NC_000011.10 - 57610852	Apr 26, 2021 (155)
131	UK 10K study - Twins	NC_000011.9 - 57378325	Oct 12, 2018 (152)
132	ALFA	NC_000011.10 - 57610852	Apr 26, 2021 (155)
133	ClinVar	RCV001263115.1	Apr 26, 2021 (155)

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)
rs56451052	May 23, 2008 (130)
rs57180821	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
97346, ss78425315, ss88602336, ss110518060, ss114654666, ss119850995, ss168422356, ss169987988, ss175146251, ss202752557, ss281023897, ss286388805, ss291052394, ss1598220313, ss1713256759, ss3638969034, ss3639795731, ss3642906445, ss3643847859, ss3847419454	NC_000011.8:57134900:C:T	NC_000011.10:57610851:C:T	(self)
53934936, 29951294, 76154, 21227664, 2582343, 13367484, 31858450, 11494549, 761596, 13959693, 28345220, 7523688, 60095050, 29951294, ss225260422, ss235574524, ss242202789, ss537099030, ss562580817, ss658088513, ss832906581, ss988557572, ss1077756493, ss1341407906, ss1426644420, ss1575734726, ss1626660377, ss1669654410, ss1806831740, ss1931917763, ss1959350770, ss1967370196, ss2026705739, ss2155007334, ss2627825273, ss2699294945, ss2900030437, ss2984943012, ss2985587331, ss3008150077, ss3021337522, ss3349617383, ss3626664152, ss3637908096, ss3651701486, ss3653715300, ss3675489416, ss3738209684, ss3749337696, ss3786963565, ss3792104154, ss3796986497, ss3832646420, ss3839881018, ss3876328240, ss3924681056, ss3985535669, ss4017539009, ss5202125743, ss5399782371, ss5624275386, ss5651291892, ss5836706693, ss5847391405, ss5942604195, ss5979359298	NC_000011.9:57378324:C:T	NC_000011.10:57610851:C:T	(self)
RCV001263115.1, 70844671, 380687340, 617914, 26335375, 846895, 83882908, 101943780, 6707770413, ss2182610498, ss3027151680, ss3649618876, ss3691852121, ss3725242305, ss3771625426, ss3814683844, ss3845360200, ss3969957374, ss4886398124, ss5287534506, ss5482703087, ss5583318736, ss5750045804, ss5812443823, ss5849992732, ss5920108377	NC_000011.10:57610851:C:T	NC_000011.10:57610851:C:T	(self)
ss15913751	NT_033903.6:2551366:C:T	NC_000011.10:57610851:C:T	(self)
ss3521711, ss23741447, ss39990690, ss67258553, ss67657304, ss68206556, ss69318162, ss70736925, ss71307243, ss75531461, ss76731292, ss84055311, ss97481336, ss132573655, ss143803173, ss153917118, ss156351834, ss159394847, ss173375993, ss244290882	NT_167190.1:2684119:C:T	NC_000011.10:57610851:C:T	(self)

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

15 citations for rs2511989

PMID	Title	Author	Year	Journal
18842294	Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.	Ennis S et al.	2008	Lancet (London, England)
19026761	Molecular pathology of age-related macular degeneration.	Ding X et al.	2009	Progress in retinal and eye research
19169411	Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.	Park KH et al.	2009	Molecular vision
19607829	Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration.	Mullins RF et al.	2009	Experimental eye research
20062564	An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population.	Lu F et al.	2010	Molecular vision
20161815	SERPING1 polymorphisms in polypoidal choroidal vasculopathy.	Li M et al.	2010	Molecular vision
20606025	The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration.	Lee AY et al.	2010	The British journal of ophthalmology
21609242	Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.	Hu J et al.	2011	Ophthalmic epidemiology
22509112	Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis.	Chen H et al.	2012	Molecular vision
24675670	Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels.	Ristau T et al.	2014	PloS one
24860613	Genetic risk, ethnic variations and pharmacogenetic biomarkers in age-related macular degeneration and polypoidal choroidal vasculopathy.	Kuo JZ et al.	2013	Expert review of ophthalmology
25800435	Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy.	Liu K et al.	2015	Scientific reports
26493033	Complement pathway biomarkers and age-related macular degeneration.	Gemenetzi M et al.	2016	Eye (London, England)
29700787	Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration.	Lorés-Motta L et al.	2018	Molecular diagnosis & therapy
34750590	The effect of systemic levels of TNF-alpha and complement pathway activity on outcomes of VEGF inhibition in neovascular AMD.	Khan AH et al.	2022	Eye (London, England)

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

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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

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Reference SNP (rs) Report

rs2511989