Name: rs4518
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.

rs4518

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:107919746 (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: C=0.327814 (86769/264690, TOPMED)
C=0.394450 (56314/142766, ALFA)
C=0.334119 (46772/139986, GnomAD) (+ 18 more)
C=0.12241 (3459/28258, 14KJPN)
C=0.12221 (2048/16758, 8.3KJPN)
C=0.2834 (1815/6404, 1000G_30x)
C=0.2855 (1430/5008, 1000G)
C=0.4092 (1833/4480, Estonian)
C=0.4115 (1586/3854, ALSPAC)
C=0.4132 (1532/3708, TWINSUK)
C=0.1399 (410/2930, KOREAN)
C=0.2556 (483/1890, HapMap)
C=0.1386 (254/1832, Korea1K)
C=0.422 (421/998, GoNL)
C=0.428 (257/600, NorthernSweden)
C=0.213 (106/498, SGDP_PRJ)
C=0.366 (79/216, Qatari)
C=0.182 (39/214, Vietnamese)
C=0.15 (8/52, Siberian)
C=0.50 (20/40, GENOME_DK)
T=0.50 (20/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DLD : 3 Prime UTR 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	142766	C=0.394450	T=0.605550	0.159114	0.370214	0.470672	9
European	Sub	126170	C=0.406182	T=0.593818	0.166918	0.354553	0.478529	3
African	Sub	6670	C=0.2139	T=0.7861	0.04018	0.612294	0.347526	2
African Others	Sub	242	C=0.140	T=0.860	0.033058	0.752066	0.214876	1
African American	Sub	6428	C=0.2167	T=0.7833	0.040448	0.607032	0.35252	3
Asian	Sub	628	C=0.153	T=0.847	0.019108	0.713376	0.267516	0
East Asian	Sub	496	C=0.155	T=0.845	0.020161	0.709677	0.270161	0
Other Asian	Sub	132	C=0.144	T=0.856	0.015152	0.727273	0.257576	0
Latin American 1	Sub	692	C=0.370	T=0.630	0.138728	0.398844	0.462428	0
Latin American 2	Sub	2264	C=0.3958	T=0.6042	0.160777	0.369258	0.469965	0
South Asian	Sub	184	C=0.457	T=0.543	0.206522	0.293478	0.5	0
Other	Sub	6158	C=0.3746	T=0.6254	0.142579	0.39331	0.464112	0

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=0.327814	T=0.672186
Allele Frequency Aggregator	Total	Global	142766	C=0.394450	T=0.605550
Allele Frequency Aggregator	European	Sub	126170	C=0.406182	T=0.593818
Allele Frequency Aggregator	African	Sub	6670	C=0.2139	T=0.7861
Allele Frequency Aggregator	Other	Sub	6158	C=0.3746	T=0.6254
Allele Frequency Aggregator	Latin American 2	Sub	2264	C=0.3958	T=0.6042
Allele Frequency Aggregator	Latin American 1	Sub	692	C=0.370	T=0.630
Allele Frequency Aggregator	Asian	Sub	628	C=0.153	T=0.847
Allele Frequency Aggregator	South Asian	Sub	184	C=0.457	T=0.543
gnomAD - Genomes	Global	Study-wide	139986	C=0.334119	T=0.665881
gnomAD - Genomes	European	Sub	75798	C=0.40258	T=0.59742
gnomAD - Genomes	African	Sub	41950	C=0.21130	T=0.78870
gnomAD - Genomes	American	Sub	13640	C=0.35784	T=0.64216
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.3907	T=0.6093
gnomAD - Genomes	East Asian	Sub	3124	C=0.1517	T=0.8483
gnomAD - Genomes	Other	Sub	2152	C=0.3439	T=0.6561
14KJPN	JAPANESE	Study-wide	28258	C=0.12241	T=0.87759
8.3KJPN	JAPANESE	Study-wide	16758	C=0.12221	T=0.87779
1000Genomes_30x	Global	Study-wide	6404	C=0.2834	T=0.7166
1000Genomes_30x	African	Sub	1786	C=0.1613	T=0.8387
1000Genomes_30x	Europe	Sub	1266	C=0.3973	T=0.6027
1000Genomes_30x	South Asian	Sub	1202	C=0.4226	T=0.5774
1000Genomes_30x	East Asian	Sub	1170	C=0.1393	T=0.8607
1000Genomes_30x	American	Sub	980	C=0.360	T=0.640
1000Genomes	Global	Study-wide	5008	C=0.2855	T=0.7145
1000Genomes	African	Sub	1322	C=0.1619	T=0.8381
1000Genomes	East Asian	Sub	1008	C=0.1409	T=0.8591
1000Genomes	Europe	Sub	1006	C=0.4066	T=0.5934
1000Genomes	South Asian	Sub	978	C=0.428	T=0.572
1000Genomes	American	Sub	694	C=0.354	T=0.646
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4092	T=0.5908
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4115	T=0.5885
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4132	T=0.5868
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1399	T=0.8601
HapMap	Global	Study-wide	1890	C=0.2556	T=0.7444
HapMap	American	Sub	768	C=0.354	T=0.646
HapMap	African	Sub	692	C=0.162	T=0.838
HapMap	Asian	Sub	254	C=0.142	T=0.858
HapMap	Europe	Sub	176	C=0.358	T=0.642
Korean Genome Project	KOREAN	Study-wide	1832	C=0.1386	T=0.8614
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.422	T=0.578
Northern Sweden	ACPOP	Study-wide	600	C=0.428	T=0.572
SGDP_PRJ	Global	Study-wide	498	C=0.213	T=0.787
Qatari	Global	Study-wide	216	C=0.366	T=0.634
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.182	T=0.818
Siberian	Global	Study-wide	52	C=0.15	T=0.85
The Danish reference pan genome	Danish	Study-wide	40	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 7	NC_000007.14:g.107919746C>T
GRCh37.p13 chr 7	NC_000007.13:g.107560191C>T
DLD RefSeqGene	NG_008045.1:g.33606C>T

Gene: DLD, dihydrolipoamide dehydrogenase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DLD transcript variant 2	NM_001289750.1:c.*487=	N/A	3 Prime UTR Variant
DLD transcript variant 3	NM_001289751.1:c.*487=	N/A	3 Prime UTR Variant
DLD transcript variant 4	NM_001289752.1:c.*487=	N/A	3 Prime UTR Variant
DLD transcript variant 1	NM_000108.5:c.*487=	N/A	3 Prime UTR 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: 301488 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000290158.3	Pyruvate dehydrogenase complex deficiency	Benign
RCV000347564.3	Pyruvate dehydrogenase E3 deficiency	Benign
RCV000393003.3	Leigh syndrome	Benign
RCV001618652.3	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=	T
GRCh38.p14 chr 7	NC_000007.14:g.107919746=	NC_000007.14:g.107919746C>T
GRCh37.p13 chr 7	NC_000007.13:g.107560191=	NC_000007.13:g.107560191C>T
DLD RefSeqGene	NG_008045.1:g.33606=	NG_008045.1:g.33606C>T
DLD transcript variant 1	NM_000108.5:c.*487=	NM_000108.5:c.*487C>T
DLD transcript variant 1	NM_000108.4:c.*487=	NM_000108.4:c.*487C>T
DLD transcript	NM_000108.3:c.*487=	NM_000108.3:c.*487C>T
DLD transcript variant 3	NM_001289751.1:c.*487=	NM_001289751.1:c.*487C>T
DLD transcript variant 4	NM_001289752.1:c.*487=	NM_001289752.1:c.*487C>T
DLD transcript variant 2	NM_001289750.1:c.*487=	NM_001289750.1:c.*487C>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#.

127 SubSNP, 20 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss867	Sep 19, 2000 (52)
2	WIAF	ss1265	Sep 19, 2000 (52)
3	CGAP-GAI	ss9386	Sep 19, 2000 (52)
4	LEE	ss1523126	Oct 04, 2000 (86)
5	LEE	ss4394169	May 29, 2002 (106)
6	YUSUKE	ss4921601	Aug 28, 2002 (108)
7	BCM_SSAHASNP	ss10413279	Jul 11, 2003 (116)
8	WUGSC_SSAHASNP	ss14574012	Dec 05, 2003 (120)
9	CGAP-GAI	ss16225548	Feb 28, 2004 (121)
10	CSHL-HAPMAP	ss17180948	Feb 27, 2004 (120)
11	CSHL-HAPMAP	ss20317412	Feb 27, 2004 (120)
12	SSAHASNP	ss22559864	Apr 05, 2004 (121)
13	SSAHASNP	ss22939438	Apr 05, 2004 (121)
14	PERLEGEN	ss24451478	Sep 20, 2004 (123)
15	ABI	ss44785254	Mar 15, 2006 (126)
16	ILLUMINA	ss65742991	Oct 16, 2006 (127)
17	AFFY	ss66028069	Dec 02, 2006 (127)
18	ILLUMINA	ss74882266	Dec 07, 2007 (129)
19	HUMANGENOME_JCVI	ss98326301	Feb 05, 2009 (130)
20	BGI	ss105563080	Feb 05, 2009 (130)
21	1000GENOMES	ss112430740	Jan 25, 2009 (130)
22	1000GENOMES	ss114233441	Jan 25, 2009 (130)
23	ILLUMINA-UK	ss116239768	Feb 14, 2009 (130)
24	KRIBB_YJKIM	ss119337401	Dec 01, 2009 (131)
25	ENSEMBL	ss143635709	Dec 01, 2009 (131)
26	GMI	ss155321746	Dec 01, 2009 (131)
27	ILLUMINA	ss160684465	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss165088651	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss166975182	Jul 04, 2010 (132)
30	ILLUMINA	ss173746190	Jul 04, 2010 (132)
31	BUSHMAN	ss198057921	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss207947191	Jul 04, 2010 (132)
33	1000GENOMES	ss223255552	Jul 14, 2010 (132)
34	1000GENOMES	ss234113448	Jul 15, 2010 (132)
35	1000GENOMES	ss241041511	Jul 15, 2010 (132)
36	GMI	ss279479203	May 04, 2012 (137)
37	GMI	ss285693989	Apr 25, 2013 (138)
38	PJP	ss293942039	May 09, 2011 (134)
39	ILLUMINA	ss480961631	May 04, 2012 (137)
40	ILLUMINA	ss480981553	May 04, 2012 (137)
41	ILLUMINA	ss481952065	Sep 08, 2015 (146)
42	ILLUMINA	ss485275727	May 04, 2012 (137)
43	ILLUMINA	ss537242398	Sep 08, 2015 (146)
44	TISHKOFF	ss560218101	Apr 25, 2013 (138)
45	SSMP	ss654623401	Apr 25, 2013 (138)
46	ILLUMINA	ss778909986	Sep 08, 2015 (146)
47	ILLUMINA	ss783083792	Sep 08, 2015 (146)
48	ILLUMINA	ss784041362	Sep 08, 2015 (146)
49	ILLUMINA	ss832342159	Sep 08, 2015 (146)
50	ILLUMINA	ss834371325	Sep 08, 2015 (146)
51	EVA-GONL	ss984647844	Aug 21, 2014 (142)
52	JMKIDD_LAB	ss1074871042	Aug 21, 2014 (142)
53	1000GENOMES	ss1326566637	Aug 21, 2014 (142)
54	DDI	ss1431239327	Apr 01, 2015 (144)
55	EVA_GENOME_DK	ss1582347093	Apr 01, 2015 (144)
56	EVA_DECODE	ss1594228302	Apr 01, 2015 (144)
57	EVA_UK10K_ALSPAC	ss1618913149	Apr 01, 2015 (144)
58	EVA_UK10K_TWINSUK	ss1661907182	Apr 01, 2015 (144)
59	EVA_SVP	ss1712978308	Apr 01, 2015 (144)
60	ILLUMINA	ss1752657651	Sep 08, 2015 (146)
61	HAMMER_LAB	ss1805158724	Sep 08, 2015 (146)
62	WEILL_CORNELL_DGM	ss1927911062	Feb 12, 2016 (147)
63	GENOMED	ss1970783452	Jul 19, 2016 (147)
64	JJLAB	ss2024638141	Sep 14, 2016 (149)
65	ILLUMINA	ss2094979221	Dec 20, 2016 (150)
66	ILLUMINA	ss2095202372	Dec 20, 2016 (150)
67	USC_VALOUEV	ss2152863885	Dec 20, 2016 (150)
68	HUMAN_LONGEVITY	ss2296647502	Dec 20, 2016 (150)
69	SYSTEMSBIOZJU	ss2626811591	Nov 08, 2017 (151)
70	ILLUMINA	ss2634645179	Nov 08, 2017 (151)
71	GRF	ss2708578187	Nov 08, 2017 (151)
72	GNOMAD	ss2857452351	Nov 08, 2017 (151)
73	SWEGEN	ss3001808503	Nov 08, 2017 (151)
74	BIOINF_KMB_FNS_UNIBA	ss3026111655	Nov 08, 2017 (151)
75	CSHL	ss3347781690	Nov 08, 2017 (151)
76	ILLUMINA	ss3629885875	Oct 12, 2018 (152)
77	ILLUMINA	ss3632550236	Oct 12, 2018 (152)
78	ILLUMINA	ss3633474017	Oct 12, 2018 (152)
79	ILLUMINA	ss3634199503	Oct 12, 2018 (152)
80	ILLUMINA	ss3635136356	Oct 12, 2018 (152)
81	ILLUMINA	ss3635879028	Oct 12, 2018 (152)
82	ILLUMINA	ss3636870415	Oct 12, 2018 (152)
83	ILLUMINA	ss3637632058	Oct 12, 2018 (152)
84	ILLUMINA	ss3638716711	Oct 12, 2018 (152)
85	ILLUMINA	ss3640843648	Oct 12, 2018 (152)
86	ILLUMINA	ss3643651032	Oct 12, 2018 (152)
87	OMUKHERJEE_ADBS	ss3646362412	Oct 12, 2018 (152)
88	URBANLAB	ss3648724005	Oct 12, 2018 (152)
89	ILLUMINA	ss3653302173	Oct 12, 2018 (152)
90	EGCUT_WGS	ss3669552085	Jul 13, 2019 (153)
91	EVA_DECODE	ss3720416716	Jul 13, 2019 (153)
92	ACPOP	ss3734952474	Jul 13, 2019 (153)
93	ILLUMINA	ss3745436366	Jul 13, 2019 (153)
94	EVA	ss3766993161	Jul 13, 2019 (153)
95	ILLUMINA	ss3772929138	Jul 13, 2019 (153)
96	PACBIO	ss3785921256	Jul 13, 2019 (153)
97	PACBIO	ss3791206072	Jul 13, 2019 (153)
98	PACBIO	ss3796086163	Jul 13, 2019 (153)
99	KHV_HUMAN_GENOMES	ss3810164725	Jul 13, 2019 (153)
100	EVA	ss3825726824	Apr 26, 2020 (154)
101	EVA	ss3830750317	Apr 26, 2020 (154)
102	EVA	ss3838874285	Apr 26, 2020 (154)
103	EVA	ss3844330007	Apr 26, 2020 (154)
104	SGDP_PRJ	ss3868107052	Apr 26, 2020 (154)
105	KRGDB	ss3915422758	Apr 26, 2020 (154)
106	KOGIC	ss3962317576	Apr 26, 2020 (154)
107	FSA-LAB	ss3984377710	Apr 26, 2021 (155)
108	FSA-LAB	ss3984377711	Apr 26, 2021 (155)
109	EVA	ss3986041039	Apr 26, 2021 (155)
110	EVA	ss4017352875	Apr 26, 2021 (155)
111	TOPMED	ss4758568244	Apr 26, 2021 (155)
112	TOMMO_GENOMICS	ss5184947253	Apr 26, 2021 (155)
113	1000G_HIGH_COVERAGE	ss5274243067	Oct 13, 2022 (156)
114	EVA	ss5315270709	Oct 13, 2022 (156)
115	EVA	ss5375864508	Oct 13, 2022 (156)
116	HUGCELL_USP	ss5471180713	Oct 13, 2022 (156)
117	EVA	ss5509082388	Oct 13, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5563124543	Oct 13, 2022 (156)
119	SANFORD_IMAGENETICS	ss5643704309	Oct 13, 2022 (156)
120	TOMMO_GENOMICS	ss5725754490	Oct 13, 2022 (156)
121	EVA	ss5799733704	Oct 13, 2022 (156)
122	EVA	ss5800058432	Oct 13, 2022 (156)
123	YY_MCH	ss5808978063	Oct 13, 2022 (156)
124	EVA	ss5823336063	Oct 13, 2022 (156)
125	EVA	ss5856043453	Oct 13, 2022 (156)
126	EVA	ss5860312748	Oct 13, 2022 (156)
127	EVA	ss5972887868	Oct 13, 2022 (156)
128	1000Genomes	NC_000007.13 - 107560191	Oct 12, 2018 (152)
129	1000Genomes_30x	NC_000007.14 - 107919746	Oct 13, 2022 (156)
130	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 107560191	Oct 12, 2018 (152)
131	Genetic variation in the Estonian population	NC_000007.13 - 107560191	Oct 12, 2018 (152)
132	The Danish reference pan genome	NC_000007.13 - 107560191	Apr 26, 2020 (154)
133	gnomAD - Genomes	NC_000007.14 - 107919746	Apr 26, 2021 (155)
134	Genome of the Netherlands Release 5	NC_000007.13 - 107560191	Apr 26, 2020 (154)
135	HapMap	NC_000007.14 - 107919746	Apr 26, 2020 (154)
136	KOREAN population from KRGDB	NC_000007.13 - 107560191	Apr 26, 2020 (154)
137	Korean Genome Project	NC_000007.14 - 107919746	Apr 26, 2020 (154)
138	Northern Sweden	NC_000007.13 - 107560191	Jul 13, 2019 (153)
139	Qatari	NC_000007.13 - 107560191	Apr 26, 2020 (154)
140	SGDP_PRJ	NC_000007.13 - 107560191	Apr 26, 2020 (154)
141	Siberian	NC_000007.13 - 107560191	Apr 26, 2020 (154)
142	8.3KJPN	NC_000007.13 - 107560191	Apr 26, 2021 (155)
143	14KJPN	NC_000007.14 - 107919746	Oct 13, 2022 (156)
144	TopMed	NC_000007.14 - 107919746	Apr 26, 2021 (155)
145	UK 10K study - Twins	NC_000007.13 - 107560191	Oct 12, 2018 (152)
146	A Vietnamese Genetic Variation Database	NC_000007.13 - 107560191	Jul 13, 2019 (153)
147	ALFA	NC_000007.14 - 107919746	Apr 26, 2021 (155)
148	ClinVar	RCV000290158.3	Oct 13, 2022 (156)
149	ClinVar	RCV000347564.3	Oct 13, 2022 (156)
150	ClinVar	RCV000393003.3	Oct 13, 2022 (156)
151	ClinVar	RCV001618652.3	Oct 13, 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)
rs3177772	Jul 03, 2002 (106)
rs3735603	Oct 08, 2002 (108)
rs10368560	Feb 27, 2004 (120)
rs11538951	Apr 05, 2004 (121)
rs17154617	Oct 08, 2004 (123)
rs17412507	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss112430740, ss114233441, ss116239768, ss165088651, ss166975182, ss198057921, ss207947191, ss279479203, ss285693989, ss293942039, ss480961631, ss1594228302, ss1712978308, ss2094979221, ss3643651032	NC_000007.12:107347426:C:T	NC_000007.14:107919745:C:T	(self)
38588898, 21467470, 15290333, 8512032, 9582037, 22600152, 8237339, 9952992, 20124032, 5380239, 42916560, 21467470, 4784705, ss223255552, ss234113448, ss241041511, ss480981553, ss481952065, ss485275727, ss537242398, ss560218101, ss654623401, ss778909986, ss783083792, ss784041362, ss832342159, ss834371325, ss984647844, ss1074871042, ss1326566637, ss1431239327, ss1582347093, ss1618913149, ss1661907182, ss1752657651, ss1805158724, ss1927911062, ss1970783452, ss2024638141, ss2095202372, ss2152863885, ss2626811591, ss2634645179, ss2708578187, ss2857452351, ss3001808503, ss3347781690, ss3629885875, ss3632550236, ss3633474017, ss3634199503, ss3635136356, ss3635879028, ss3636870415, ss3637632058, ss3638716711, ss3640843648, ss3646362412, ss3653302173, ss3669552085, ss3734952474, ss3745436366, ss3766993161, ss3772929138, ss3785921256, ss3791206072, ss3796086163, ss3825726824, ss3830750317, ss3838874285, ss3868107052, ss3915422758, ss3984377710, ss3984377711, ss3986041039, ss4017352875, ss5184947253, ss5315270709, ss5375864508, ss5509082388, ss5643704309, ss5799733704, ss5800058432, ss5823336063, ss5972887868	NC_000007.13:107560190:C:T	NC_000007.14:107919745:C:T	(self)
RCV000290158.3, RCV000347564.3, RCV000393003.3, RCV001618652.3, 50650478, 272369796, 3464799, 18695577, 59591594, 595945803, 12237116997, ss2296647502, ss3026111655, ss3648724005, ss3720416716, ss3810164725, ss3844330007, ss3962317576, ss4758568244, ss5274243067, ss5471180713, ss5563124543, ss5725754490, ss5808978063, ss5856043453, ss5860312748	NC_000007.14:107919745:C:T	NC_000007.14:107919745:C:T	(self)
ss10413279	NT_007933.12:32742908:C:T	NC_000007.14:107919745:C:T	(self)
ss14574012, ss17180948, ss20317412, ss22559864, ss22939438	NT_007933.13:32742908:C:T	NC_000007.14:107919745:C:T	(self)
ss867, ss1265, ss9386, ss1523126, ss4394169, ss4921601, ss16225548, ss24451478, ss44785254, ss65742991, ss66028069, ss74882266, ss98326301, ss105563080, ss119337401, ss143635709, ss155321746, ss160684465, ss173746190	NT_007933.15:45593033:C:T	NC_000007.14:107919745: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 rs4518

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4518