Name: rs2799072
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.

rs2799072

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:1055393 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.190374 (50390/264690, TOPMED)
C=0.191336 (26820/140172, GnomAD)
C=0.00004 (1/28258, 14KJPN) (+ 17 more)
C=0.15550 (3926/25248, ALFA)
C=0.00006 (1/16760, 8.3KJPN)
C=0.1583 (1014/6404, 1000G_30x)
C=0.1540 (771/5008, 1000G)
C=0.1326 (594/4480, Estonian)
C=0.1251 (482/3854, ALSPAC)
C=0.1262 (468/3708, TWINSUK)
C=0.0010 (3/2928, KOREAN)
C=0.0011 (2/1828, Korea1K)
C=0.108 (108/998, GoNL)
C=0.172 (103/600, NorthernSweden)
C=0.100 (55/548, SGDP_PRJ)
C=0.324 (173/534, MGP)
C=0.153 (33/216, Qatari)
C=0.019 (4/212, Vietnamese)
C=0.06 (3/52, Siberian)
C=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AGRN : Synonymous Variant
Publications: 0 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	25340	C=0.15552	T=0.84448
European	Sub	20474	C=0.12841	T=0.87159
African	Sub	2946	C=0.3605	T=0.6395
African Others	Sub	114	C=0.430	T=0.570
African American	Sub	2832	C=0.3577	T=0.6423
Asian	Sub	112	C=0.000	T=1.000
East Asian	Sub	86	C=0.00	T=1.00
Other Asian	Sub	26	C=0.00	T=1.00
Latin American 1	Sub	146	C=0.116	T=0.884
Latin American 2	Sub	610	C=0.067	T=0.933
South Asian	Sub	98	C=0.11	T=0.89
Other	Sub	954	C=0.190	T=0.810

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=0.190374	T=0.809626
gnomAD - Genomes	Global	Study-wide	140172	C=0.191336	T=0.808664
gnomAD - Genomes	European	Sub	75924	C=0.12902	T=0.87098
gnomAD - Genomes	African	Sub	41978	C=0.35526	T=0.64474
gnomAD - Genomes	American	Sub	13662	C=0.09896	T=0.90104
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.1198	T=0.8802
gnomAD - Genomes	East Asian	Sub	3134	C=0.0045	T=0.9955
gnomAD - Genomes	Other	Sub	2152	C=0.1612	T=0.8388
14KJPN	JAPANESE	Study-wide	28258	C=0.00004	T=0.99996
Allele Frequency Aggregator	Total	Global	25248	C=0.15550	T=0.84450
Allele Frequency Aggregator	European	Sub	20398	C=0.12830	T=0.87170
Allele Frequency Aggregator	African	Sub	2946	C=0.3605	T=0.6395
Allele Frequency Aggregator	Other	Sub	938	C=0.190	T=0.810
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.067	T=0.933
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.116	T=0.884
Allele Frequency Aggregator	Asian	Sub	112	C=0.000	T=1.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.11	T=0.89
8.3KJPN	JAPANESE	Study-wide	16760	C=0.00006	T=0.99994
1000Genomes_30x	Global	Study-wide	6404	C=0.1583	T=0.8417
1000Genomes_30x	African	Sub	1786	C=0.3740	T=0.6260
1000Genomes_30x	Europe	Sub	1266	C=0.1185	T=0.8815
1000Genomes_30x	South Asian	Sub	1202	C=0.0832	T=0.9168
1000Genomes_30x	East Asian	Sub	1170	C=0.0068	T=0.9932
1000Genomes_30x	American	Sub	980	C=0.090	T=0.910
1000Genomes	Global	Study-wide	5008	C=0.1540	T=0.8460
1000Genomes	African	Sub	1322	C=0.3767	T=0.6233
1000Genomes	East Asian	Sub	1008	C=0.0069	T=0.9931
1000Genomes	Europe	Sub	1006	C=0.1213	T=0.8787
1000Genomes	South Asian	Sub	978	C=0.084	T=0.916
1000Genomes	American	Sub	694	C=0.089	T=0.911
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.1326	T=0.8674
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.1251	T=0.8749
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.1262	T=0.8738
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.0010	A=0.0000, G=0.0000, T=0.9990
Korean Genome Project	KOREAN	Study-wide	1828	C=0.0011	T=0.9989
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.108	T=0.892
Northern Sweden	ACPOP	Study-wide	600	C=0.172	T=0.828
SGDP_PRJ	Global	Study-wide	548	C=0.100	T=0.900
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.324	T=0.676
Qatari	Global	Study-wide	216	C=0.153	T=0.847
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.019	T=0.981
Siberian	Global	Study-wide	52	C=0.06	T=0.94
The Danish reference pan genome	Danish	Study-wide	40	C=0.07	T=0.93

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.1055393C>A
GRCh38.p14 chr 1	NC_000001.11:g.1055393C>G
GRCh38.p14 chr 1	NC_000001.11:g.1055393C>T
GRCh37.p13 chr 1	NC_000001.10:g.990773C>A
GRCh37.p13 chr 1	NC_000001.10:g.990773C>G
GRCh37.p13 chr 1	NC_000001.10:g.990773C>T
AGRN RefSeqGene (LRG_198)	NG_016346.1:g.40271C>A
AGRN RefSeqGene (LRG_198)	NG_016346.1:g.40271C>G
AGRN RefSeqGene (LRG_198)	NG_016346.1:g.40271C>T

Gene: AGRN, agrin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AGRN transcript variant 2	NM_198576.4:c.*412=	N/A	3 Prime UTR Variant
AGRN transcript variant 1	NM_001305275.2:c.*412=	N/A	3 Prime UTR Variant
AGRN transcript variant 3	NM_001364727.2:c.*412=	N/A	3 Prime UTR Variant
AGRN transcript variant X1	XM_005244749.4:c.*412=	N/A	3 Prime UTR Variant
AGRN transcript variant X4	XM_047419837.1:c.*412=	N/A	3 Prime UTR Variant
AGRN transcript variant X5	XM_047419838.1:c.*412=	N/A	3 Prime UTR Variant
AGRN transcript variant X2	XM_011541429.3:c.6009C>A	P [CCC] > P [CCA]	Coding Sequence Variant
agrin isoform X2	XP_011539731.1:p.Pro2003=	P (Pro) > P (Pro)	Synonymous Variant
AGRN transcript variant X2	XM_011541429.3:c.6009C>G	P [CCC] > P [CCG]	Coding Sequence Variant
agrin isoform X2	XP_011539731.1:p.Pro2003=	P (Pro) > P (Pro)	Synonymous Variant
AGRN transcript variant X2	XM_011541429.3:c.6009C>T	P [CCC] > P [CCT]	Coding Sequence Variant
agrin isoform X2	XP_011539731.1:p.Pro2003=	P (Pro) > P (Pro)	Synonymous Variant
AGRN transcript variant X3	XM_047419836.1:c.5997C>A	P [CCC] > P [CCA]	Coding Sequence Variant
agrin isoform X3	XP_047275792.1:p.Pro1999=	P (Pro) > P (Pro)	Synonymous Variant
AGRN transcript variant X3	XM_047419836.1:c.5997C>G	P [CCC] > P [CCG]	Coding Sequence Variant
agrin isoform X3	XP_047275792.1:p.Pro1999=	P (Pro) > P (Pro)	Synonymous Variant
AGRN transcript variant X3	XM_047419836.1:c.5997C>T	P [CCC] > P [CCT]	Coding Sequence Variant
agrin isoform X3	XP_047275792.1:p.Pro1999=	P (Pro) > P (Pro)	Synonymous 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.

Not Reported in ClinVar

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=	A	G	T
GRCh38.p14 chr 1	NC_000001.11:g.1055393=	NC_000001.11:g.1055393C>A	NC_000001.11:g.1055393C>G	NC_000001.11:g.1055393C>T
GRCh37.p13 chr 1	NC_000001.10:g.990773=	NC_000001.10:g.990773C>A	NC_000001.10:g.990773C>G	NC_000001.10:g.990773C>T
AGRN RefSeqGene (LRG_198)	NG_016346.1:g.40271=	NG_016346.1:g.40271C>A	NG_016346.1:g.40271C>G	NG_016346.1:g.40271C>T
AGRN transcript variant 2	NM_198576.4:c.*412=	NM_198576.4:c.*412C>A	NM_198576.4:c.*412C>G	NM_198576.4:c.*412C>T
AGRN transcript variant 2	NM_198576.3:c.*412=	NM_198576.3:c.*412C>A	NM_198576.3:c.*412C>G	NM_198576.3:c.*412C>T
AGRN transcript variant 3	NM_001364727.2:c.*412=	NM_001364727.2:c.*412C>A	NM_001364727.2:c.*412C>G	NM_001364727.2:c.*412C>T
AGRN transcript variant 3	NM_001364727.1:c.*412=	NM_001364727.1:c.*412C>A	NM_001364727.1:c.*412C>G	NM_001364727.1:c.*412C>T
AGRN transcript variant 1	NM_001305275.2:c.*412=	NM_001305275.2:c.*412C>A	NM_001305275.2:c.*412C>G	NM_001305275.2:c.*412C>T
AGRN transcript variant 1	NM_001305275.1:c.*412=	NM_001305275.1:c.*412C>A	NM_001305275.1:c.*412C>G	NM_001305275.1:c.*412C>T
AGRN transcript variant X1	XM_005244749.4:c.*412=	XM_005244749.4:c.*412C>A	XM_005244749.4:c.*412C>G	XM_005244749.4:c.*412C>T
AGRN transcript variant X1	XM_005244749.3:c.*412=	XM_005244749.3:c.*412C>A	XM_005244749.3:c.*412C>G	XM_005244749.3:c.*412C>T
AGRN transcript variant X1	XM_005244749.2:c.*412=	XM_005244749.2:c.*412C>A	XM_005244749.2:c.*412C>G	XM_005244749.2:c.*412C>T
AGRN transcript variant X2	XM_005244749.1:c.*412=	XM_005244749.1:c.*412C>A	XM_005244749.1:c.*412C>G	XM_005244749.1:c.*412C>T
AGRN transcript variant X2	XM_011541429.3:c.6009=	XM_011541429.3:c.6009C>A	XM_011541429.3:c.6009C>G	XM_011541429.3:c.6009C>T
AGRN transcript variant X3	XM_011541429.2:c.6009=	XM_011541429.2:c.6009C>A	XM_011541429.2:c.6009C>G	XM_011541429.2:c.6009C>T
AGRN transcript variant X3	XM_011541429.1:c.6009=	XM_011541429.1:c.6009C>A	XM_011541429.1:c.6009C>G	XM_011541429.1:c.6009C>T
AGRN transcript variant X3	XM_047419836.1:c.5997=	XM_047419836.1:c.5997C>A	XM_047419836.1:c.5997C>G	XM_047419836.1:c.5997C>T
AGRN transcript variant X4	XM_047419837.1:c.*412=	XM_047419837.1:c.*412C>A	XM_047419837.1:c.*412C>G	XM_047419837.1:c.*412C>T
AGRN transcript variant X5	XM_047419838.1:c.*412=	XM_047419838.1:c.*412C>A	XM_047419838.1:c.*412C>G	XM_047419838.1:c.*412C>T
agrin isoform X2	XP_011539731.1:p.Pro2003=	XP_011539731.1:p.Pro2003=	XP_011539731.1:p.Pro2003=	XP_011539731.1:p.Pro2003=
agrin isoform X3	XP_047275792.1:p.Pro1999=	XP_047275792.1:p.Pro1999=	XP_047275792.1:p.Pro1999=	XP_047275792.1:p.Pro1999=

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#.

88 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3964986	Sep 28, 2001 (100)
2	TSC-CSHL	ss5397734	Oct 08, 2002 (108)
3	SC_JCM	ss5972781	Feb 20, 2003 (111)
4	CGAP-GAI	ss16226390	Feb 27, 2004 (120)
5	ABI	ss41081150	Mar 15, 2006 (126)
6	HGSV	ss77821962	Dec 07, 2007 (129)
7	HGSV	ss78810918	Dec 07, 2007 (129)
8	BCMHGSC_JDW	ss87157853	Mar 23, 2008 (129)
9	HUMANGENOME_JCVI	ss97913554	Feb 05, 2009 (130)
10	BGI	ss105112053	Dec 01, 2009 (131)
11	1000GENOMES	ss107938524	Jan 22, 2009 (130)
12	1000GENOMES	ss109940489	Jan 24, 2009 (130)
13	ENSEMBL	ss143779342	Dec 01, 2009 (131)
14	GMI	ss154526907	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss163706410	Jul 04, 2010 (132)
16	BUSHMAN	ss197888020	Jul 04, 2010 (132)
17	BCM-HGSC-SUB	ss205476527	Jul 04, 2010 (132)
18	1000GENOMES	ss218191606	Jul 14, 2010 (132)
19	1000GENOMES	ss230396239	Jul 14, 2010 (132)
20	1000GENOMES	ss238115817	Jul 15, 2010 (132)
21	BL	ss252866066	May 09, 2011 (134)
22	GMI	ss275682210	May 04, 2012 (137)
23	GMI	ss283987972	Apr 25, 2013 (138)
24	PJP	ss290494240	May 09, 2011 (134)
25	TISHKOFF	ss553712713	Apr 25, 2013 (138)
26	SSMP	ss647517965	Apr 25, 2013 (138)
27	EVA-GONL	ss974771440	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1067613363	Aug 21, 2014 (142)
29	1000GENOMES	ss1289348016	Aug 21, 2014 (142)
30	DDI	ss1425685638	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1573851812	Apr 01, 2015 (144)
32	EVA_DECODE	ss1584131376	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1599381545	Apr 01, 2015 (144)
34	EVA_UK10K_TWINSUK	ss1642375578	Apr 01, 2015 (144)
35	EVA_MGP	ss1710883655	Apr 01, 2015 (144)
36	HAMMER_LAB	ss1793715747	Sep 08, 2015 (146)
37	WEILL_CORNELL_DGM	ss1917963128	Feb 12, 2016 (147)
38	GENOMED	ss1966667679	Jul 19, 2016 (147)
39	JJLAB	ss2019499517	Sep 14, 2016 (149)
40	USC_VALOUEV	ss2147486151	Dec 20, 2016 (150)
41	HUMAN_LONGEVITY	ss2159381317	Dec 20, 2016 (150)
42	SYSTEMSBIOZJU	ss2624265382	Nov 08, 2017 (151)
43	GRF	ss2697377105	Nov 08, 2017 (151)
44	GNOMAD	ss2750664961	Nov 08, 2017 (151)
45	AFFY	ss2984841225	Nov 08, 2017 (151)
46	AFFY	ss2985494999	Nov 08, 2017 (151)
47	SWEGEN	ss2986153348	Nov 08, 2017 (151)
48	ILLUMINA	ss3021043662	Nov 08, 2017 (151)
49	BIOINF_KMB_FNS_UNIBA	ss3023514166	Nov 08, 2017 (151)
50	CSHL	ss3343273881	Nov 08, 2017 (151)
51	OMUKHERJEE_ADBS	ss3646218940	Oct 11, 2018 (152)
52	URBANLAB	ss3646581756	Oct 11, 2018 (152)
53	ILLUMINA	ss3651365714	Oct 11, 2018 (152)
54	ILLUMINA	ss3653614989	Oct 11, 2018 (152)
55	EGCUT_WGS	ss3654264505	Jul 12, 2019 (153)
56	EVA_DECODE	ss3685996757	Jul 12, 2019 (153)
57	ILLUMINA	ss3724988422	Jul 12, 2019 (153)
58	ACPOP	ss3726718216	Jul 12, 2019 (153)
59	EVA	ss3745723598	Jul 12, 2019 (153)
60	PACBIO	ss3783302928	Jul 12, 2019 (153)
61	PACBIO	ss3788980651	Jul 12, 2019 (153)
62	PACBIO	ss3793853202	Jul 12, 2019 (153)
63	KHV_HUMAN_GENOMES	ss3798746245	Jul 12, 2019 (153)
64	EVA	ss3825549207	Apr 25, 2020 (154)
65	EVA	ss3825982372	Apr 25, 2020 (154)
66	EVA	ss3836378935	Apr 25, 2020 (154)
67	EVA	ss3841782964	Apr 25, 2020 (154)
68	SGDP_PRJ	ss3848001850	Apr 25, 2020 (154)
69	KRGDB	ss3892844217	Apr 25, 2020 (154)
70	KOGIC	ss3943634843	Apr 25, 2020 (154)
71	FSA-LAB	ss3983910649	Apr 25, 2021 (155)
72	FSA-LAB	ss3983910650	Apr 25, 2021 (155)
73	EVA	ss3986007844	Apr 25, 2021 (155)
74	TOPMED	ss4436502389	Apr 25, 2021 (155)
75	TOMMO_GENOMICS	ss5142063833	Apr 25, 2021 (155)
76	1000G_HIGH_COVERAGE	ss5240871386	Oct 12, 2022 (156)
77	EVA	ss5316196687	Oct 12, 2022 (156)
78	HUGCELL_USP	ss5442118492	Oct 12, 2022 (156)
79	1000G_HIGH_COVERAGE	ss5512499338	Oct 12, 2022 (156)
80	SANFORD_IMAGENETICS	ss5624754147	Oct 12, 2022 (156)
81	TOMMO_GENOMICS	ss5666207101	Oct 12, 2022 (156)
82	EVA	ss5800076451	Oct 12, 2022 (156)
83	YY_MCH	ss5800245831	Oct 12, 2022 (156)
84	EVA	ss5831421840	Oct 12, 2022 (156)
85	EVA	ss5848749582	Oct 12, 2022 (156)
86	EVA	ss5906712751	Oct 12, 2022 (156)
87	EVA	ss5936586581	Oct 12, 2022 (156)
88	EVA	ss5979926392	Oct 12, 2022 (156)
89	1000Genomes	NC_000001.10 - 990773	Oct 11, 2018 (152)
90	1000Genomes_30x	NC_000001.11 - 1055393	Oct 12, 2022 (156)
91	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 990773	Oct 11, 2018 (152)
92	Genetic variation in the Estonian population	NC_000001.10 - 990773	Oct 11, 2018 (152)
93	The Danish reference pan genome	NC_000001.10 - 990773	Apr 25, 2020 (154)
94	gnomAD - Genomes	NC_000001.11 - 1055393	Apr 25, 2021 (155)
95	Genome of the Netherlands Release 5	NC_000001.10 - 990773	Apr 25, 2020 (154)
96	KOREAN population from KRGDB	NC_000001.10 - 990773	Apr 25, 2020 (154)
97	Korean Genome Project	NC_000001.11 - 1055393	Apr 25, 2020 (154)
98	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 990773	Apr 25, 2020 (154)
99	Northern Sweden	NC_000001.10 - 990773	Jul 12, 2019 (153)
100	Qatari	NC_000001.10 - 990773	Apr 25, 2020 (154)
101	SGDP_PRJ	NC_000001.10 - 990773	Apr 25, 2020 (154)
102	Siberian	NC_000001.10 - 990773	Apr 25, 2020 (154)
103	8.3KJPN	NC_000001.10 - 990773	Apr 25, 2021 (155)
104	14KJPN	NC_000001.11 - 1055393	Oct 12, 2022 (156)
105	TopMed	NC_000001.11 - 1055393	Apr 25, 2021 (155)
106	UK 10K study - Twins	NC_000001.10 - 990773	Oct 11, 2018 (152)
107	A Vietnamese Genetic Variation Database	NC_000001.10 - 990773	Jul 12, 2019 (153)
108	ALFA	NC_000001.11 - 1055393	Apr 25, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
21611, ss3892844217	NC_000001.10:990772:C:A	NC_000001.11:1055392:C:A	(self)
21611, ss3892844217	NC_000001.10:990772:C:G	NC_000001.11:1055392:C:G	(self)
ss77821962, ss78810918	NC_000001.8:1030695:C:T	NC_000001.11:1055392:C:T	(self)
ss87157853, ss107938524, ss109940489, ss163706410, ss197888020, ss205476527, ss252866066, ss275682210, ss283987972, ss290494240, ss1584131376	NC_000001.9:980635:C:T	NC_000001.11:1055392:C:T	(self)
13076, 3850, 2753, 1359046, 1938, 21611, 407, 3081, 5058, 18830, 2505, 33140, 3850, 886, ss218191606, ss230396239, ss238115817, ss553712713, ss647517965, ss974771440, ss1067613363, ss1289348016, ss1425685638, ss1573851812, ss1599381545, ss1642375578, ss1710883655, ss1793715747, ss1917963128, ss1966667679, ss2019499517, ss2147486151, ss2624265382, ss2697377105, ss2750664961, ss2984841225, ss2985494999, ss2986153348, ss3021043662, ss3343273881, ss3646218940, ss3651365714, ss3653614989, ss3654264505, ss3726718216, ss3745723598, ss3783302928, ss3788980651, ss3793853202, ss3825549207, ss3825982372, ss3836378935, ss3848001850, ss3892844217, ss3983910649, ss3983910650, ss3986007844, ss5142063833, ss5316196687, ss5624754147, ss5800076451, ss5831421840, ss5936586581, ss5979926392	NC_000001.10:990772:C:T	NC_000001.11:1055392:C:T	(self)
25273, 125757, 12844, 44205, 108724, 9533011423, ss2159381317, ss3023514166, ss3646581756, ss3685996757, ss3724988422, ss3798746245, ss3841782964, ss3943634843, ss4436502389, ss5240871386, ss5442118492, ss5512499338, ss5666207101, ss5800245831, ss5848749582, ss5906712751	NC_000001.11:1055392:C:T	NC_000001.11:1055392:C:T	(self)
ss3964986, ss5397734, ss5972781, ss16226390, ss41081150, ss97913554, ss105112053, ss143779342, ss154526907	NT_004350.19:469404:C:T	NC_000001.11:1055392:C:T	(self)

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

No publications for rs2799072

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).
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

rs2799072