Name: rs4745
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.

rs4745

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:155133751 (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: A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.376803 (99736/264690, TOPMED)
T=0.447309 (112467/251430, GnomAD_exome)
T=0.397671 (55619/139862, GnomAD) (+ 25 more)
T=0.448486 (54430/121364, ExAC)
A=0.494009 (56651/114676, ALFA)
T=0.26336 (20727/78702, PAGE_STUDY)
T=0.08349 (2359/28256, 14KJPN)
T=0.08341 (1398/16760, 8.3KJPN)
T=0.40850 (5313/13006, GO-ESP)
T=0.3198 (2048/6404, 1000G_30x)
T=0.3199 (1602/5008, 1000G)
A=0.4629 (2074/4480, Estonian)
A=0.4883 (1882/3854, ALSPAC)
A=0.4655 (1726/3708, TWINSUK)
T=0.1492 (436/2922, KOREAN)
T=0.1299 (238/1832, Korea1K)
A=0.471 (470/998, GoNL)
T=0.144 (114/790, PRJEB37584)
T=0.320 (196/613, Vietnamese)
A=0.457 (274/600, NorthernSweden)
A=0.440 (235/534, MGP)
T=0.461 (140/304, FINRISK)
A=0.342 (95/278, SGDP_PRJ)
A=0.449 (97/216, Qatari)
T=0.38 (38/100, Ancient Sardinia)
A=0.50 (20/40, GENOME_DK)
T=0.50 (20/40, GENOME_DK)
A=0.41 (14/34, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: EFNA1 : Missense Variant
SLC50A1 : 2KB Upstream Variant
Publications: 3 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	114676	A=0.494009	T=0.505991
European	Sub	96934	A=0.46833	T=0.53167
African	Sub	4374	A=0.7913	T=0.2087
African Others	Sub	174	A=0.937	T=0.063
African American	Sub	4200	A=0.7852	T=0.2148
Asian	Sub	3328	A=0.8101	T=0.1899
East Asian	Sub	2672	A=0.8630	T=0.1370
Other Asian	Sub	656	A=0.595	T=0.405
Latin American 1	Sub	786	A=0.588	T=0.412
Latin American 2	Sub	946	A=0.674	T=0.326
South Asian	Sub	274	A=0.504	T=0.496
Other	Sub	8034	A=0.4803	T=0.5197

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	A=0.623197	T=0.376803
gnomAD - Exomes	Global	Study-wide	251430	A=0.552691	T=0.447309
gnomAD - Exomes	European	Sub	135376	A=0.471007	T=0.528993
gnomAD - Exomes	Asian	Sub	48990	A=0.63048	T=0.36952
gnomAD - Exomes	American	Sub	34592	A=0.67403	T=0.32597
gnomAD - Exomes	African	Sub	16256	A=0.83858	T=0.16142
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	A=0.41486	T=0.58514
gnomAD - Exomes	Other	Sub	6138	A=0.5187	T=0.4813
gnomAD - Genomes	Global	Study-wide	139862	A=0.602329	T=0.397671
gnomAD - Genomes	European	Sub	75774	A=0.47544	T=0.52456
gnomAD - Genomes	African	Sub	41898	A=0.82930	T=0.17070
gnomAD - Genomes	American	Sub	13594	A=0.60939	T=0.39061
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.4131	T=0.5869
gnomAD - Genomes	East Asian	Sub	3124	A=0.8086	T=0.1914
gnomAD - Genomes	Other	Sub	2148	A=0.5996	T=0.4004
ExAC	Global	Study-wide	121364	A=0.551514	T=0.448486
ExAC	Europe	Sub	73328	A=0.46644	T=0.53356
ExAC	Asian	Sub	25152	A=0.62381	T=0.37619
ExAC	American	Sub	11572	A=0.68389	T=0.31611
ExAC	African	Sub	10404	A=0.83112	T=0.16888
ExAC	Other	Sub	908	A=0.529	T=0.471
Allele Frequency Aggregator	Total	Global	114676	A=0.494009	T=0.505991
Allele Frequency Aggregator	European	Sub	96934	A=0.46833	T=0.53167
Allele Frequency Aggregator	Other	Sub	8034	A=0.4803	T=0.5197
Allele Frequency Aggregator	African	Sub	4374	A=0.7913	T=0.2087
Allele Frequency Aggregator	Asian	Sub	3328	A=0.8101	T=0.1899
Allele Frequency Aggregator	Latin American 2	Sub	946	A=0.674	T=0.326
Allele Frequency Aggregator	Latin American 1	Sub	786	A=0.588	T=0.412
Allele Frequency Aggregator	South Asian	Sub	274	A=0.504	T=0.496
The PAGE Study	Global	Study-wide	78702	A=0.73664	T=0.26336
The PAGE Study	AfricanAmerican	Sub	32516	A=0.82064	T=0.17936
The PAGE Study	Mexican	Sub	10810	A=0.64542	T=0.35458
The PAGE Study	Asian	Sub	8318	A=0.8913	T=0.1087
The PAGE Study	PuertoRican	Sub	7918	A=0.6271	T=0.3729
The PAGE Study	NativeHawaiian	Sub	4534	A=0.6162	T=0.3838
The PAGE Study	Cuban	Sub	4230	A=0.5390	T=0.4610
The PAGE Study	Dominican	Sub	3828	A=0.6727	T=0.3273
The PAGE Study	CentralAmerican	Sub	2450	A=0.6804	T=0.3196
The PAGE Study	SouthAmerican	Sub	1982	A=0.7013	T=0.2987
The PAGE Study	NativeAmerican	Sub	1260	A=0.5913	T=0.4087
The PAGE Study	SouthAsian	Sub	856	A=0.565	T=0.435
14KJPN	JAPANESE	Study-wide	28256	A=0.91651	T=0.08349
8.3KJPN	JAPANESE	Study-wide	16760	A=0.91659	T=0.08341
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.59150	T=0.40850
GO Exome Sequencing Project	European American	Sub	8600	A=0.4713	T=0.5287
GO Exome Sequencing Project	African American	Sub	4406	A=0.8261	T=0.1739
1000Genomes_30x	Global	Study-wide	6404	A=0.6802	T=0.3198
1000Genomes_30x	African	Sub	1786	A=0.8488	T=0.1512
1000Genomes_30x	Europe	Sub	1266	A=0.4763	T=0.5237
1000Genomes_30x	South Asian	Sub	1202	A=0.5308	T=0.4692
1000Genomes_30x	East Asian	Sub	1170	A=0.8000	T=0.2000
1000Genomes_30x	American	Sub	980	A=0.677	T=0.323
1000Genomes	Global	Study-wide	5008	A=0.6801	T=0.3199
1000Genomes	African	Sub	1322	A=0.8480	T=0.1520
1000Genomes	East Asian	Sub	1008	A=0.8036	T=0.1964
1000Genomes	Europe	Sub	1006	A=0.4791	T=0.5209
1000Genomes	South Asian	Sub	978	A=0.529	T=0.471
1000Genomes	American	Sub	694	A=0.686	T=0.314
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4629	T=0.5371
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4883	T=0.5117
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4655	T=0.5345
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.8508	T=0.1492
Korean Genome Project	KOREAN	Study-wide	1832	A=0.8701	T=0.1299
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.471	T=0.529
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.856	T=0.144
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.856	T=0.144
A Vietnamese Genetic Variation Database	Global	Study-wide	613	A=0.680	T=0.320
Northern Sweden	ACPOP	Study-wide	600	A=0.457	T=0.543
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.440	T=0.560
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.539	T=0.461
SGDP_PRJ	Global	Study-wide	278	A=0.342	T=0.658
Qatari	Global	Study-wide	216	A=0.449	T=0.551
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	100	A=0.62	T=0.38
The Danish reference pan genome	Danish	Study-wide	40	A=0.50	T=0.50
Siberian	Global	Study-wide	34	A=0.41	T=0.59

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.155133751A>T
GRCh37.p13 chr 1	NC_000001.10:g.155106227A>T

Gene: SLC50A1, solute carrier family 50 member 1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SLC50A1 transcript variant 8	NM_001287590.2:c.	N/A	Upstream Transcript Variant
SLC50A1 transcript variant 9	NM_001287591.2:c.	N/A	Upstream Transcript Variant
SLC50A1 transcript variant 10	NM_001287592.2:c.	N/A	Upstream Transcript Variant
SLC50A1 transcript variant 2	NM_001122837.2:c.	N/A	N/A
SLC50A1 transcript variant 3	NM_001122839.2:c.	N/A	N/A
SLC50A1 transcript variant 4	NM_001287586.2:c.	N/A	N/A
SLC50A1 transcript variant 5	NM_001287587.2:c.	N/A	N/A
SLC50A1 transcript variant 6	NM_001287588.2:c.	N/A	N/A
SLC50A1 transcript variant 7	NM_001287589.2:c.	N/A	N/A
SLC50A1 transcript variant 1	NM_018845.4:c.	N/A	N/A
SLC50A1 transcript variant X4	XM_005245342.4:c.	N/A	Upstream Transcript Variant
SLC50A1 transcript variant X1	XM_047425442.1:c.	N/A	Upstream Transcript Variant
SLC50A1 transcript variant X2	XM_047425443.1:c.	N/A	Upstream Transcript Variant
SLC50A1 transcript variant X6	XM_047425464.1:c.	N/A	Upstream Transcript Variant
SLC50A1 transcript variant X3	XM_006711453.3:c.	N/A	N/A
SLC50A1 transcript variant X5	XM_047425460.1:c.	N/A	N/A
SLC50A1 transcript variant X7	XM_047425465.1:c.	N/A	N/A

Gene: EFNA1, ephrin A1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EFNA1 transcript variant 1	NM_004428.3:c.476A>T	D [GAC] > V [GTC]	Coding Sequence Variant
ephrin-A1 isoform a precursor	NP_004419.2:p.Asp159Val	D (Asp) > V (Val)	Missense Variant
EFNA1 transcript variant 2	NM_182685.2:c.410A>T	D [GAC] > V [GTC]	Coding Sequence Variant
ephrin-A1 isoform b precursor	NP_872626.1:p.Asp137Val	D (Asp) > V (Val)	Missense 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: 1258199 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001685615.1	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	A=	T
GRCh38.p14 chr 1	NC_000001.11:g.155133751=	NC_000001.11:g.155133751A>T
GRCh37.p13 chr 1	NC_000001.10:g.155106227=	NC_000001.10:g.155106227A>T
EFNA1 transcript variant 1	NM_004428.3:c.476=	NM_004428.3:c.476A>T
EFNA1 transcript variant 1	NM_004428.2:c.476=	NM_004428.2:c.476A>T
EFNA1 transcript variant 2	NM_182685.2:c.410=	NM_182685.2:c.410A>T
EFNA1 transcript variant 2	NM_182685.1:c.410=	NM_182685.1:c.410A>T
ephrin-A1 isoform a precursor	NP_004419.2:p.Asp159=	NP_004419.2:p.Asp159Val
ephrin-A1 isoform b precursor	NP_872626.1:p.Asp137=	NP_872626.1:p.Asp137Val

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#.

153 SubSNP, 27 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEBNICK	ss5456	Sep 19, 2000 (52)
2	LEE	ss1509720	Oct 13, 2000 (102)
3	LEE	ss4403825	May 29, 2002 (108)
4	SC_JCM	ss5612757	Feb 20, 2003 (126)
5	BCM_SSAHASNP	ss9879015	Jul 11, 2003 (126)
6	CGAP-GAI	ss16241845	Feb 28, 2004 (126)
7	CSHL-HAPMAP	ss19146560	Feb 27, 2004 (126)
8	CSHL-HAPMAP	ss19867785	Feb 27, 2004 (126)
9	SSAHASNP	ss20514205	Apr 05, 2004 (126)
10	MGC_GENOME_DIFF	ss28509864	Sep 24, 2004 (126)
11	ABI	ss44048333	Mar 11, 2006 (126)
12	APPLERA_GI	ss48411132	Mar 11, 2006 (126)
13	ILLUMINA	ss65731575	Oct 13, 2006 (127)
14	PERLEGEN	ss68780673	May 16, 2007 (127)
15	AFFY	ss74808209	Aug 16, 2007 (128)
16	ILLUMINA	ss74864581	Dec 07, 2007 (129)
17	AFFY	ss76619847	Dec 07, 2007 (129)
18	SI_EXO	ss76885839	Dec 07, 2007 (129)
19	HGSV	ss81385471	Dec 15, 2007 (130)
20	BCMHGSC_JDW	ss87825819	Mar 23, 2008 (129)
21	BGI	ss102785954	Dec 01, 2009 (131)
22	KRIBB_YJKIM	ss104807809	Feb 05, 2009 (130)
23	1000GENOMES	ss108602175	Jan 23, 2009 (130)
24	ILLUMINA-UK	ss119034276	Feb 15, 2009 (130)
25	ENSEMBL	ss138083901	Dec 01, 2009 (131)
26	ENSEMBL	ss139209733	Dec 01, 2009 (131)
27	SEATTLESEQ	ss159699046	Dec 01, 2009 (131)
28	ILLUMINA	ss160705884	Dec 01, 2009 (131)
29	COMPLETE_GENOMICS	ss167138165	Jul 04, 2010 (132)
30	ILLUMINA	ss173797761	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss205385812	Jul 04, 2010 (132)
32	1000GENOMES	ss218652950	Jul 14, 2010 (132)
33	1000GENOMES	ss230733210	Jul 14, 2010 (132)
34	1000GENOMES	ss238380752	Jul 15, 2010 (132)
35	GMI	ss276052347	May 04, 2012 (137)
36	GMI	ss284153280	Apr 25, 2013 (138)
37	PJP	ss290637770	May 09, 2011 (134)
38	NHLBI-ESP	ss341997674	May 09, 2011 (134)
39	ILLUMINA	ss481028483	May 04, 2012 (137)
40	ILLUMINA	ss481049628	May 04, 2012 (137)
41	ILLUMINA	ss482037847	Sep 08, 2015 (146)
42	ILLUMINA	ss485309278	May 04, 2012 (137)
43	1000GENOMES	ss489767467	May 04, 2012 (137)
44	EXOME_CHIP	ss491302548	May 04, 2012 (137)
45	CLINSEQ_SNP	ss491605337	May 04, 2012 (137)
46	ILLUMINA	ss537267367	Sep 08, 2015 (146)
47	TISHKOFF	ss554699825	Apr 25, 2013 (138)
48	SSMP	ss648416118	Apr 25, 2013 (138)
49	ILLUMINA	ss778342403	Aug 21, 2014 (142)
50	ILLUMINA	ss780695259	Aug 21, 2014 (142)
51	ILLUMINA	ss783100451	Aug 21, 2014 (142)
52	ILLUMINA	ss783369227	Aug 21, 2014 (142)
53	ILLUMINA	ss784057691	Aug 21, 2014 (142)
54	ILLUMINA	ss832359015	Apr 01, 2015 (144)
55	ILLUMINA	ss833797018	Aug 21, 2014 (142)
56	EVA-GONL	ss975686035	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1067426596	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1068271922	Aug 21, 2014 (142)
59	1000GENOMES	ss1292939822	Aug 21, 2014 (142)
60	DDI	ss1425979939	Apr 01, 2015 (144)
61	EVA_GENOME_DK	ss1574394161	Apr 01, 2015 (144)
62	EVA_FINRISK	ss1584011468	Apr 01, 2015 (144)
63	EVA_DECODE	ss1585067700	Apr 01, 2015 (144)
64	EVA_UK10K_ALSPAC	ss1601221642	Apr 01, 2015 (144)
65	EVA_UK10K_TWINSUK	ss1644215675	Apr 01, 2015 (144)
66	EVA_EXAC	ss1685812506	Apr 01, 2015 (144)
67	EVA_MGP	ss1710925781	Apr 01, 2015 (144)
68	EVA_SVP	ss1712371244	Apr 01, 2015 (144)
69	ILLUMINA	ss1751872604	Sep 08, 2015 (146)
70	ILLUMINA	ss1917735520	Feb 12, 2016 (147)
71	WEILL_CORNELL_DGM	ss1918919949	Feb 12, 2016 (147)
72	ILLUMINA	ss1946009787	Feb 12, 2016 (147)
73	ILLUMINA	ss1958318340	Feb 12, 2016 (147)
74	GENOMED	ss1966868223	Jul 19, 2016 (147)
75	JJLAB	ss2019975446	Sep 14, 2016 (149)
76	USC_VALOUEV	ss2148000250	Dec 20, 2016 (150)
77	HUMAN_LONGEVITY	ss2166572403	Dec 20, 2016 (150)
78	SYSTEMSBIOZJU	ss2624495678	Nov 08, 2017 (151)
79	GRF	ss2697973071	Nov 08, 2017 (151)
80	GNOMAD	ss2731903495	Nov 08, 2017 (151)
81	GNOMAD	ss2746453834	Nov 08, 2017 (151)
82	GNOMAD	ss2761358318	Nov 08, 2017 (151)
83	AFFY	ss2984879626	Nov 08, 2017 (151)
84	SWEGEN	ss2987757721	Nov 08, 2017 (151)
85	ILLUMINA	ss3021136968	Nov 08, 2017 (151)
86	EVA_SAMSUNG_MC	ss3023057215	Nov 08, 2017 (151)
87	BIOINF_KMB_FNS_UNIBA	ss3023744929	Nov 08, 2017 (151)
88	CSHL	ss3343712090	Nov 08, 2017 (151)
89	ILLUMINA	ss3626209542	Oct 11, 2018 (152)
90	ILLUMINA	ss3626209543	Oct 11, 2018 (152)
91	ILLUMINA	ss3630609520	Oct 11, 2018 (152)
92	ILLUMINA	ss3632910156	Oct 11, 2018 (152)
93	ILLUMINA	ss3633605496	Oct 11, 2018 (152)
94	ILLUMINA	ss3634350261	Oct 11, 2018 (152)
95	ILLUMINA	ss3636029639	Oct 11, 2018 (152)
96	ILLUMINA	ss3637787637	Oct 11, 2018 (152)
97	ILLUMINA	ss3640057618	Oct 11, 2018 (152)
98	ILLUMINA	ss3642796875	Oct 11, 2018 (152)
99	ILLUMINA	ss3644505744	Oct 11, 2018 (152)
100	OMUKHERJEE_ADBS	ss3646246214	Oct 11, 2018 (152)
101	URBANLAB	ss3646791995	Oct 11, 2018 (152)
102	ILLUMINA	ss3651471356	Oct 11, 2018 (152)
103	ILLUMINA	ss3653648834	Oct 11, 2018 (152)
104	EGCUT_WGS	ss3655698295	Jul 12, 2019 (153)
105	EVA_DECODE	ss3687789747	Jul 12, 2019 (153)
106	ILLUMINA	ss3725066017	Jul 12, 2019 (153)
107	ACPOP	ss3727488491	Jul 12, 2019 (153)
108	ILLUMINA	ss3744352760	Jul 12, 2019 (153)
109	ILLUMINA	ss3744651167	Jul 12, 2019 (153)
110	EVA	ss3746812530	Jul 12, 2019 (153)
111	PAGE_CC	ss3770841488	Jul 12, 2019 (153)
112	ILLUMINA	ss3772152296	Jul 12, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3799813620	Jul 12, 2019 (153)
114	EVA	ss3823664578	Apr 25, 2020 (154)
115	EVA	ss3825518555	Apr 25, 2020 (154)
116	EVA	ss3825576063	Apr 25, 2020 (154)
117	EVA	ss3826425858	Apr 25, 2020 (154)
118	EVA	ss3836607569	Apr 25, 2020 (154)
119	EVA	ss3842016801	Apr 25, 2020 (154)
120	SGDP_PRJ	ss3850013480	Apr 25, 2020 (154)
121	KRGDB	ss3895221652	Apr 25, 2020 (154)
122	KOGIC	ss3945659692	Apr 25, 2020 (154)
123	FSA-LAB	ss3983947474	Apr 25, 2021 (155)
124	FSA-LAB	ss3983947475	Apr 25, 2021 (155)
125	EVA	ss3984464835	Apr 25, 2021 (155)
126	EVA	ss3984825732	Apr 25, 2021 (155)
127	EVA	ss3986013209	Apr 25, 2021 (155)
128	EVA	ss3986139364	Apr 25, 2021 (155)
129	EVA	ss4016938323	Apr 25, 2021 (155)
130	TOPMED	ss4468435740	Apr 25, 2021 (155)
131	TOMMO_GENOMICS	ss5146500556	Apr 25, 2021 (155)
132	EVA	ss5236873804	Apr 25, 2021 (155)
133	EVA	ss5237163998	Apr 25, 2021 (155)
134	1000G_HIGH_COVERAGE	ss5244305205	Oct 12, 2022 (156)
135	EVA	ss5314651334	Oct 12, 2022 (156)
136	EVA	ss5322073502	Oct 12, 2022 (156)
137	HUGCELL_USP	ss5444897510	Oct 12, 2022 (156)
138	1000G_HIGH_COVERAGE	ss5517639851	Oct 12, 2022 (156)
139	EVA	ss5623916581	Oct 12, 2022 (156)
140	EVA	ss5623997883	Oct 12, 2022 (156)
141	SANFORD_IMAGENETICS	ss5626598119	Oct 12, 2022 (156)
142	TOMMO_GENOMICS	ss5673701847	Oct 12, 2022 (156)
143	EVA	ss5799410291	Oct 12, 2022 (156)
144	EVA	ss5799498958	Oct 12, 2022 (156)
145	EVA	ss5800085827	Oct 12, 2022 (156)
146	YY_MCH	ss5801263068	Oct 12, 2022 (156)
147	EVA	ss5832670166	Oct 12, 2022 (156)
148	EVA	ss5847556681	Oct 12, 2022 (156)
149	EVA	ss5848272954	Oct 12, 2022 (156)
150	EVA	ss5849110103	Oct 12, 2022 (156)
151	EVA	ss5910260085	Oct 12, 2022 (156)
152	EVA	ss5938392367	Oct 12, 2022 (156)
153	EVA	ss5979990289	Oct 12, 2022 (156)
154	1000Genomes	NC_000001.10 - 155106227	Oct 11, 2018 (152)
155	1000Genomes_30x	NC_000001.11 - 155133751	Oct 12, 2022 (156)
156	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 155106227	Oct 11, 2018 (152)
157	Genetic variation in the Estonian population	NC_000001.10 - 155106227	Oct 11, 2018 (152)
158	ExAC	NC_000001.10 - 155106227	Oct 11, 2018 (152)
159	FINRISK	NC_000001.10 - 155106227	Apr 25, 2020 (154)
160	The Danish reference pan genome	NC_000001.10 - 155106227	Apr 25, 2020 (154)
161	gnomAD - Genomes	NC_000001.11 - 155133751	Apr 25, 2021 (155)
162	gnomAD - Exomes	NC_000001.10 - 155106227	Jul 12, 2019 (153)
163	GO Exome Sequencing Project	NC_000001.10 - 155106227	Oct 11, 2018 (152)
164	Genome of the Netherlands Release 5	NC_000001.10 - 155106227	Apr 25, 2020 (154)
165	KOREAN population from KRGDB	NC_000001.10 - 155106227	Apr 25, 2020 (154)
166	Korean Genome Project	NC_000001.11 - 155133751	Apr 25, 2020 (154)
167	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 155106227	Apr 25, 2020 (154)
168	Northern Sweden	NC_000001.10 - 155106227	Jul 12, 2019 (153)
169	The PAGE Study	NC_000001.11 - 155133751	Jul 12, 2019 (153)
170	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 155106227	Apr 25, 2021 (155)
171	CNV burdens in cranial meningiomas	NC_000001.10 - 155106227	Apr 25, 2021 (155)
172	Qatari	NC_000001.10 - 155106227	Apr 25, 2020 (154)
173	SGDP_PRJ	NC_000001.10 - 155106227	Apr 25, 2020 (154)
174	Siberian	NC_000001.10 - 155106227	Apr 25, 2020 (154)
175	8.3KJPN	NC_000001.10 - 155106227	Apr 25, 2021 (155)
176	14KJPN	NC_000001.11 - 155133751	Oct 12, 2022 (156)
177	TopMed	NC_000001.11 - 155133751	Apr 25, 2021 (155)
178	UK 10K study - Twins	NC_000001.10 - 155106227	Oct 11, 2018 (152)
179	A Vietnamese Genetic Variation Database	NC_000001.10 - 155106227	Jul 12, 2019 (153)
180	ALFA	NC_000001.11 - 155133751	Apr 25, 2021 (155)
181	ClinVar	RCV001685615.1	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)
rs1126731	Jan 04, 2002 (102)
rs3181946	Oct 08, 2002 (108)
rs4255378	Mar 11, 2006 (126)
rs11545253	Mar 11, 2006 (126)
rs17855562	Mar 11, 2006 (126)
rs52820739	Sep 21, 2007 (128)
rs58483156	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81385471	NC_000001.8:151919299:A:T	NC_000001.11:155133750:A:T	(self)
ss76619847, ss87825819, ss108602175, ss119034276, ss167138165, ss205385812, ss276052347, ss284153280, ss290637770, ss481028483, ss491605337, ss1585067700, ss1712371244, ss3642796875	NC_000001.9:153372850:A:T	NC_000001.11:155133750:A:T	(self)
3732333, 2029648, 1436543, 5031699, 7929, 1709897, 926311, 123172, 881458, 2399046, 42533, 773356, 51659, 14149, 961879, 2030460, 516604, 4469863, 2029648, 435965, ss218652950, ss230733210, ss238380752, ss341997674, ss481049628, ss482037847, ss485309278, ss489767467, ss491302548, ss537267367, ss554699825, ss648416118, ss778342403, ss780695259, ss783100451, ss783369227, ss784057691, ss832359015, ss833797018, ss975686035, ss1067426596, ss1068271922, ss1292939822, ss1425979939, ss1574394161, ss1584011468, ss1601221642, ss1644215675, ss1685812506, ss1710925781, ss1751872604, ss1917735520, ss1918919949, ss1946009787, ss1958318340, ss1966868223, ss2019975446, ss2148000250, ss2624495678, ss2697973071, ss2731903495, ss2746453834, ss2761358318, ss2984879626, ss2987757721, ss3021136968, ss3023057215, ss3343712090, ss3626209542, ss3626209543, ss3630609520, ss3632910156, ss3633605496, ss3634350261, ss3636029639, ss3637787637, ss3640057618, ss3644505744, ss3646246214, ss3651471356, ss3653648834, ss3655698295, ss3727488491, ss3744352760, ss3744651167, ss3746812530, ss3772152296, ss3823664578, ss3825518555, ss3825576063, ss3826425858, ss3836607569, ss3850013480, ss3895221652, ss3983947474, ss3983947475, ss3984464835, ss3984825732, ss3986013209, ss3986139364, ss4016938323, ss5146500556, ss5314651334, ss5322073502, ss5623916581, ss5623997883, ss5626598119, ss5799410291, ss5799498958, ss5800085827, ss5832670166, ss5847556681, ss5848272954, ss5938392367, ss5979990289	NC_000001.10:155106226:A:T	NC_000001.11:155133750:A:T	(self)
RCV001685615.1, 5165786, 27160720, 2037693, 62957, 7538951, 32042075, 4229621475, ss2166572403, ss3023744929, ss3646791995, ss3687789747, ss3725066017, ss3770841488, ss3799813620, ss3842016801, ss3945659692, ss4468435740, ss5236873804, ss5237163998, ss5244305205, ss5444897510, ss5517639851, ss5673701847, ss5801263068, ss5849110103, ss5910260085	NC_000001.11:155133750:A:T	NC_000001.11:155133750:A:T	(self)
ss76885839	NT_004487.18:5596581:A:T	NC_000001.11:155133750:A:T	(self)
ss5456, ss1509720, ss4403825, ss5612757, ss16241845, ss28509864, ss44048333, ss48411132, ss65731575, ss68780673, ss74808209, ss74864581, ss102785954, ss104807809, ss138083901, ss139209733, ss159699046, ss160705884, ss173797761	NT_004487.19:6594868:A:T	NC_000001.11:155133750:A:T	(self)
ss9879015	NT_004668.15:1556058:A:T	NC_000001.11:155133750:A:T	(self)
ss19146560, ss19867785, ss20514205	NT_079484.1:1556058:A:T	NC_000001.11:155133750:A:T	(self)

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

3 citations for rs4745

PMID	Title	Author	Year	Journal
17952073	Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.	Burton PR et al.	2007	Nature genetics
24943594	Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.	Milne RL et al.	2014	Human molecular genetics
25687184	Genome-wide association pathway analysis to identify candidate single nucleotide polymorphisms and molecular pathways for gastric adenocarcinoma.	Zhu H et al.	2015	Tumour biology

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

rs4745