Name: rs4958531
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.

rs4958531

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:152392277 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.175976 (53821/305842, ALFA)
C=0.147100 (38936/264690, TOPMED)
C=0.183501 (46119/251328, GnomAD_exome) (+ 25 more)
C=0.142685 (19987/140078, GnomAD)
C=0.174492 (21169/121318, ExAC)
C=0.12687 (9982/78678, PAGE_STUDY)
C=0.01805 (510/28258, 14KJPN)
C=0.01850 (310/16760, 8.3KJPN)
C=0.13771 (1791/13006, GO-ESP)
C=0.1249 (800/6404, 1000G_30x)
C=0.1228 (615/5008, 1000G)
C=0.1812 (812/4480, Estonian)
C=0.1928 (743/3854, ALSPAC)
C=0.2042 (757/3708, TWINSUK)
C=0.0301 (88/2922, KOREAN)
C=0.0951 (169/1778, HapMap)
C=0.2421 (275/1136, Daghestan)
C=0.174 (174/998, GoNL)
C=0.049 (39/790, PRJEB37584)
C=0.021 (13/612, Vietnamese)
C=0.143 (86/600, NorthernSweden)
C=0.176 (94/534, MGP)
C=0.191 (58/304, FINRISK)
C=0.111 (24/216, Qatari)
T=0.418 (61/146, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.50 (6/12, Siberian)
C=0.50 (6/12, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NMUR2 : Missense Variant
Publications: 2 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	322322	T=0.825792	C=0.174208
European	Sub	270308	T=0.818163	C=0.181837
African	Sub	13480	T=0.95319	C=0.04681
African Others	Sub	488	T=0.982	C=0.018
African American	Sub	12992	T=0.95212	C=0.04788
Asian	Sub	6864	T=0.9671	C=0.0329
East Asian	Sub	4910	T=0.9666	C=0.0334
Other Asian	Sub	1954	T=0.9683	C=0.0317
Latin American 1	Sub	1392	T=0.8499	C=0.1501
Latin American 2	Sub	6652	T=0.6663	C=0.3337
South Asian	Sub	368	T=0.829	C=0.171
Other	Sub	23258	T=0.84306	C=0.15694

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
Allele Frequency Aggregator	Total	Global	305842	T=0.824024	C=0.175976
Allele Frequency Aggregator	European	Sub	260114	T=0.818383	C=0.181617
Allele Frequency Aggregator	Other	Sub	21810	T=0.84232	C=0.15768
Allele Frequency Aggregator	African	Sub	8642	T=0.9511	C=0.0489
Allele Frequency Aggregator	Asian	Sub	6864	T=0.9671	C=0.0329
Allele Frequency Aggregator	Latin American 2	Sub	6652	T=0.6663	C=0.3337
Allele Frequency Aggregator	Latin American 1	Sub	1392	T=0.8499	C=0.1501
Allele Frequency Aggregator	South Asian	Sub	368	T=0.829	C=0.171
TopMed	Global	Study-wide	264690	T=0.852900	C=0.147100
gnomAD - Exomes	Global	Study-wide	251328	T=0.816499	C=0.183501
gnomAD - Exomes	European	Sub	135328	T=0.820266	C=0.179734
gnomAD - Exomes	Asian	Sub	49008	T=0.86925	C=0.13075
gnomAD - Exomes	American	Sub	34526	T=0.64968	C=0.35032
gnomAD - Exomes	African	Sub	16250	T=0.95828	C=0.04172
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	T=0.84583	C=0.15417
gnomAD - Exomes	Other	Sub	6136	T=0.8271	C=0.1729
gnomAD - Genomes	Global	Study-wide	140078	T=0.857315	C=0.142685
gnomAD - Genomes	European	Sub	75858	T=0.81515	C=0.18485
gnomAD - Genomes	African	Sub	41994	T=0.95630	C=0.04370
gnomAD - Genomes	American	Sub	13628	T=0.76563	C=0.23437
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.8488	C=0.1512
gnomAD - Genomes	East Asian	Sub	3130	T=0.9668	C=0.0332
gnomAD - Genomes	Other	Sub	2148	T=0.8464	C=0.1536
ExAC	Global	Study-wide	121318	T=0.825508	C=0.174492
ExAC	Europe	Sub	73334	T=0.82353	C=0.17647
ExAC	Asian	Sub	25166	T=0.86216	C=0.13784
ExAC	American	Sub	11504	T=0.63891	C=0.36109
ExAC	African	Sub	10406	T=0.95772	C=0.04228
ExAC	Other	Sub	908	T=0.818	C=0.182
The PAGE Study	Global	Study-wide	78678	T=0.87313	C=0.12687
The PAGE Study	AfricanAmerican	Sub	32496	T=0.95009	C=0.04991
The PAGE Study	Mexican	Sub	10810	T=0.67003	C=0.32997
The PAGE Study	Asian	Sub	8318	T=0.9734	C=0.0266
The PAGE Study	PuertoRican	Sub	7916	T=0.8340	C=0.1660
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9228	C=0.0772
The PAGE Study	Cuban	Sub	4230	T=0.8532	C=0.1468
The PAGE Study	Dominican	Sub	3826	T=0.8860	C=0.1140
The PAGE Study	CentralAmerican	Sub	2450	T=0.6971	C=0.3029
The PAGE Study	SouthAmerican	Sub	1982	T=0.6615	C=0.3385
The PAGE Study	NativeAmerican	Sub	1260	T=0.7754	C=0.2246
The PAGE Study	SouthAsian	Sub	856	T=0.819	C=0.181
14KJPN	JAPANESE	Study-wide	28258	T=0.98195	C=0.01805
8.3KJPN	JAPANESE	Study-wide	16760	T=0.98150	C=0.01850
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.86229	C=0.13771
GO Exome Sequencing Project	European American	Sub	8600	T=0.8191	C=0.1809
GO Exome Sequencing Project	African American	Sub	4406	T=0.9467	C=0.0533
1000Genomes_30x	Global	Study-wide	6404	T=0.8751	C=0.1249
1000Genomes_30x	African	Sub	1786	T=0.9899	C=0.0101
1000Genomes_30x	Europe	Sub	1266	T=0.8065	C=0.1935
1000Genomes_30x	South Asian	Sub	1202	T=0.8261	C=0.1739
1000Genomes_30x	East Asian	Sub	1170	T=0.9726	C=0.0274
1000Genomes_30x	American	Sub	980	T=0.698	C=0.302
1000Genomes	Global	Study-wide	5008	T=0.8772	C=0.1228
1000Genomes	African	Sub	1322	T=0.9879	C=0.0121
1000Genomes	East Asian	Sub	1008	T=0.9742	C=0.0258
1000Genomes	Europe	Sub	1006	T=0.7962	C=0.2038
1000Genomes	South Asian	Sub	978	T=0.833	C=0.167
1000Genomes	American	Sub	694	T=0.705	C=0.295
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8187	C=0.1812
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8072	C=0.1928
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7958	C=0.2042
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9699	C=0.0301
HapMap	Global	Study-wide	1778	T=0.9049	C=0.0951
HapMap	American	Sub	768	T=0.845	C=0.155
HapMap	African	Sub	582	T=0.983	C=0.017
HapMap	Asian	Sub	254	T=0.972	C=0.028
HapMap	Europe	Sub	174	T=0.810	C=0.190
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.7579	C=0.2421
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.691	C=0.309
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.833	C=0.167
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.852	C=0.148
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.778	C=0.222
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.89	C=0.11
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.89	C=0.11
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.826	C=0.174
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.951	C=0.049
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.951	C=0.049
A Vietnamese Genetic Variation Database	Global	Study-wide	612	T=0.979	C=0.021
Northern Sweden	ACPOP	Study-wide	600	T=0.857	C=0.143
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.824	C=0.176
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.809	C=0.191
Qatari	Global	Study-wide	216	T=0.889	C=0.111
SGDP_PRJ	Global	Study-wide	146	T=0.418	C=0.582
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	12	T=0.50	C=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 5	NC_000005.10:g.152392277T>C
GRCh37.p13 chr 5	NC_000005.9:g.151771838T>C

Gene: NMUR2, neuromedin U receptor 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NMUR2 transcript	NM_020167.5:c.1162A>G	M [ATG] > V [GTG]	Coding Sequence Variant
neuromedin-U receptor 2	NP_064552.3:p.Met388Val	M (Met) > 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.

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	T=	C
GRCh38.p14 chr 5	NC_000005.10:g.152392277=	NC_000005.10:g.152392277T>C
GRCh37.p13 chr 5	NC_000005.9:g.151771838=	NC_000005.9:g.151771838T>C
NMUR2 transcript	NM_020167.5:c.1162=	NM_020167.5:c.1162A>G
NMUR2 transcript	NM_020167.4:c.1162=	NM_020167.4:c.1162A>G
neuromedin-U receptor 2	NP_064552.3:p.Met388=	NP_064552.3:p.Met388Val

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#.

139 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6861805	Feb 20, 2003 (111)
2	PERLEGEN	ss24458014	Sep 20, 2004 (123)
3	APPLERA_GI	ss48427704	Mar 15, 2006 (126)
4	ILLUMINA	ss65728573	Oct 13, 2006 (127)
5	PERLEGEN	ss68954195	May 16, 2007 (127)
6	AFFY	ss74813131	Aug 16, 2007 (128)
7	ILLUMINA	ss74881473	Dec 07, 2007 (129)
8	HGSV	ss78383809	Dec 07, 2007 (129)
9	1000GENOMES	ss109520534	Jan 24, 2009 (130)
10	ILLUMINA	ss120035915	Dec 01, 2009 (131)
11	SEATTLESEQ	ss159710666	Dec 01, 2009 (131)
12	ILLUMINA	ss160732565	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss162779158	Jul 04, 2010 (132)
14	ILLUMINA	ss173891788	Jul 04, 2010 (132)
15	1000GENOMES	ss233202659	Jul 14, 2010 (132)
16	1000GENOMES	ss240315201	Jul 15, 2010 (132)
17	ILLUMINA	ss244302198	Jul 04, 2010 (132)
18	BL	ss253889065	May 09, 2011 (134)
19	GMI	ss278535795	May 04, 2012 (137)
20	NHLBI-ESP	ss342195182	May 09, 2011 (134)
21	ILLUMINA	ss481115726	May 04, 2012 (137)
22	ILLUMINA	ss481137747	May 04, 2012 (137)
23	ILLUMINA	ss482127366	Sep 08, 2015 (146)
24	ILLUMINA	ss485352937	May 04, 2012 (137)
25	1000GENOMES	ss490914674	May 04, 2012 (137)
26	EXOME_CHIP	ss491374500	May 04, 2012 (137)
27	CLINSEQ_SNP	ss491876659	May 04, 2012 (137)
28	ILLUMINA	ss537299059	Sep 08, 2015 (146)
29	SSMP	ss652707064	Apr 25, 2013 (138)
30	ILLUMINA	ss778926471	Sep 08, 2015 (146)
31	ILLUMINA	ss780843106	Sep 08, 2015 (146)
32	ILLUMINA	ss783122187	Sep 08, 2015 (146)
33	ILLUMINA	ss783526513	Sep 08, 2015 (146)
34	ILLUMINA	ss784078941	Sep 08, 2015 (146)
35	ILLUMINA	ss832380981	Sep 08, 2015 (146)
36	ILLUMINA	ss834387955	Sep 08, 2015 (146)
37	JMKIDD_LAB	ss974457853	Aug 21, 2014 (142)
38	EVA-GONL	ss982270352	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1067473085	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1073150657	Aug 21, 2014 (142)
41	1000GENOMES	ss1317794042	Aug 21, 2014 (142)
42	HAMMER_LAB	ss1397431521	Sep 08, 2015 (146)
43	DDI	ss1430543519	Apr 01, 2015 (144)
44	EVA_GENOME_DK	ss1581406915	Apr 01, 2015 (144)
45	EVA_FINRISK	ss1584042211	Apr 01, 2015 (144)
46	EVA_DECODE	ss1591804668	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1614323682	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1657317715	Apr 01, 2015 (144)
49	EVA_EXAC	ss1688053315	Apr 01, 2015 (144)
50	EVA_MGP	ss1711103586	Apr 01, 2015 (144)
51	EVA_SVP	ss1712811517	Apr 01, 2015 (144)
52	ILLUMINA	ss1752557275	Sep 08, 2015 (146)
53	ILLUMINA	ss1752557276	Sep 08, 2015 (146)
54	ILLUMINA	ss1917796543	Feb 12, 2016 (147)
55	WEILL_CORNELL_DGM	ss1925524963	Feb 12, 2016 (147)
56	ILLUMINA	ss1946160128	Feb 12, 2016 (147)
57	ILLUMINA	ss1958836048	Feb 12, 2016 (147)
58	AMU	ss1966655895	Feb 12, 2016 (147)
59	GENOMED	ss1970240769	Jul 19, 2016 (147)
60	JJLAB	ss2023371356	Sep 14, 2016 (149)
61	USC_VALOUEV	ss2151529971	Dec 20, 2016 (150)
62	HUMAN_LONGEVITY	ss2279364905	Dec 20, 2016 (150)
63	ILLUMINA	ss2634358664	Nov 08, 2017 (151)
64	GRF	ss2707100558	Nov 08, 2017 (151)
65	GNOMAD	ss2735376306	Nov 08, 2017 (151)
66	GNOMAD	ss2747495827	Nov 08, 2017 (151)
67	GNOMAD	ss2832426660	Nov 08, 2017 (151)
68	AFFY	ss2985342384	Nov 08, 2017 (151)
69	SWEGEN	ss2998022692	Nov 08, 2017 (151)
70	ILLUMINA	ss3022544400	Nov 08, 2017 (151)
71	BIOINF_KMB_FNS_UNIBA	ss3025467468	Nov 08, 2017 (151)
72	CSHL	ss3346690158	Nov 08, 2017 (151)
73	ILLUMINA	ss3629374923	Oct 12, 2018 (152)
74	ILLUMINA	ss3629374924	Oct 12, 2018 (152)
75	ILLUMINA	ss3632281354	Oct 12, 2018 (152)
76	ILLUMINA	ss3633394892	Oct 12, 2018 (152)
77	ILLUMINA	ss3634116329	Oct 12, 2018 (152)
78	ILLUMINA	ss3635029918	Oct 12, 2018 (152)
79	ILLUMINA	ss3635029919	Oct 12, 2018 (152)
80	ILLUMINA	ss3635797942	Oct 12, 2018 (152)
81	ILLUMINA	ss3636742903	Oct 12, 2018 (152)
82	ILLUMINA	ss3637550606	Oct 12, 2018 (152)
83	ILLUMINA	ss3638589537	Oct 12, 2018 (152)
84	ILLUMINA	ss3640737212	Oct 12, 2018 (152)
85	ILLUMINA	ss3640737213	Oct 12, 2018 (152)
86	ILLUMINA	ss3643532778	Oct 12, 2018 (152)
87	ILLUMINA	ss3644893143	Oct 12, 2018 (152)
88	OMUKHERJEE_ADBS	ss3646326947	Oct 12, 2018 (152)
89	ILLUMINA	ss3653048878	Oct 12, 2018 (152)
90	ILLUMINA	ss3654112734	Oct 12, 2018 (152)
91	EGCUT_WGS	ss3665944661	Jul 13, 2019 (153)
92	EVA_DECODE	ss3715981650	Jul 13, 2019 (153)
93	ILLUMINA	ss3726283827	Jul 13, 2019 (153)
94	ACPOP	ss3732937661	Jul 13, 2019 (153)
95	ILLUMINA	ss3744542760	Jul 13, 2019 (153)
96	ILLUMINA	ss3745330094	Jul 13, 2019 (153)
97	ILLUMINA	ss3745330095	Jul 13, 2019 (153)
98	EVA	ss3764239998	Jul 13, 2019 (153)
99	PAGE_CC	ss3771241645	Jul 13, 2019 (153)
100	ILLUMINA	ss3772824011	Jul 13, 2019 (153)
101	ILLUMINA	ss3772824012	Jul 13, 2019 (153)
102	KHV_HUMAN_GENOMES	ss3807408286	Jul 13, 2019 (153)
103	EVA	ss3824133123	Apr 26, 2020 (154)
104	EVA	ss3825684214	Apr 26, 2020 (154)
105	EVA	ss3829574891	Apr 26, 2020 (154)
106	EVA	ss3838260474	Apr 26, 2020 (154)
107	EVA	ss3843703674	Apr 26, 2020 (154)
108	SGDP_PRJ	ss3863273031	Apr 26, 2020 (154)
109	KRGDB	ss3909952442	Apr 26, 2020 (154)
110	FSA-LAB	ss3984321278	Apr 26, 2021 (155)
111	FSA-LAB	ss3984321279	Apr 26, 2021 (155)
112	EVA	ss3984556631	Apr 26, 2021 (155)
113	EVA	ss3986326200	Apr 26, 2021 (155)
114	EVA	ss4017239179	Apr 26, 2021 (155)
115	TOPMED	ss4683746528	Apr 26, 2021 (155)
116	TOMMO_GENOMICS	ss5174795000	Apr 26, 2021 (155)
117	EVA	ss5237017531	Apr 26, 2021 (155)
118	EVA	ss5237187959	Apr 26, 2021 (155)
119	EVA	ss5237382264	Apr 26, 2021 (155)
120	1000G_HIGH_COVERAGE	ss5266347475	Oct 13, 2022 (156)
121	EVA	ss5315096634	Oct 13, 2022 (156)
122	HUGCELL_USP	ss5464261941	Oct 13, 2022 (156)
123	EVA	ss5508260675	Oct 13, 2022 (156)
124	1000G_HIGH_COVERAGE	ss5551254114	Oct 13, 2022 (156)
125	EVA	ss5624151935	Oct 13, 2022 (156)
126	SANFORD_IMAGENETICS	ss5624605510	Oct 13, 2022 (156)
127	SANFORD_IMAGENETICS	ss5639167449	Oct 13, 2022 (156)
128	TOMMO_GENOMICS	ss5712063337	Oct 13, 2022 (156)
129	EVA	ss5799666292	Oct 13, 2022 (156)
130	EVA	ss5800125264	Oct 13, 2022 (156)
131	YY_MCH	ss5806888273	Oct 13, 2022 (156)
132	EVA	ss5835836952	Oct 13, 2022 (156)
133	EVA	ss5847277193	Oct 13, 2022 (156)
134	EVA	ss5848070521	Oct 13, 2022 (156)
135	EVA	ss5848639172	Oct 13, 2022 (156)
136	EVA	ss5896910029	Oct 13, 2022 (156)
137	EVA	ss5967649625	Oct 13, 2022 (156)
138	EVA	ss5979759350	Oct 13, 2022 (156)
139	EVA	ss5981231448	Oct 13, 2022 (156)
140	1000Genomes	NC_000005.9 - 151771838	Oct 12, 2018 (152)
141	1000Genomes_30x	NC_000005.10 - 152392277	Oct 13, 2022 (156)
142	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 151771838	Oct 12, 2018 (152)
143	Genome-wide autozygosity in Daghestan	NC_000005.8 - 151752031	Apr 26, 2020 (154)
144	Genetic variation in the Estonian population	NC_000005.9 - 151771838	Oct 12, 2018 (152)
145	ExAC	NC_000005.9 - 151771838	Oct 12, 2018 (152)
146	FINRISK	NC_000005.9 - 151771838	Apr 26, 2020 (154)
147	The Danish reference pan genome	NC_000005.9 - 151771838	Apr 26, 2020 (154)
148	gnomAD - Genomes	NC_000005.10 - 152392277	Apr 26, 2021 (155)
149	gnomAD - Exomes	NC_000005.9 - 151771838	Jul 13, 2019 (153)
150	GO Exome Sequencing Project	NC_000005.9 - 151771838	Oct 12, 2018 (152)
151	Genome of the Netherlands Release 5	NC_000005.9 - 151771838	Apr 26, 2020 (154)
152	HapMap	NC_000005.10 - 152392277	Apr 26, 2020 (154)
153	KOREAN population from KRGDB	NC_000005.9 - 151771838	Apr 26, 2020 (154)
154	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 151771838	Apr 26, 2020 (154)
155	Northern Sweden	NC_000005.9 - 151771838	Jul 13, 2019 (153)
156	The PAGE Study	NC_000005.10 - 152392277	Jul 13, 2019 (153)
157	CNV burdens in cranial meningiomas	NC_000005.9 - 151771838	Apr 26, 2021 (155)
158	Qatari	NC_000005.9 - 151771838	Apr 26, 2020 (154)
159	SGDP_PRJ	NC_000005.9 - 151771838	Apr 26, 2020 (154)
160	Siberian	NC_000005.9 - 151771838	Apr 26, 2020 (154)
161	8.3KJPN	NC_000005.9 - 151771838	Apr 26, 2021 (155)
162	14KJPN	NC_000005.10 - 152392277	Oct 13, 2022 (156)
163	TopMed	NC_000005.10 - 152392277	Apr 26, 2021 (155)
164	UK 10K study - Twins	NC_000005.9 - 151771838	Oct 12, 2018 (152)
165	A Vietnamese Genetic Variation Database	NC_000005.9 - 151771838	Jul 13, 2019 (153)
166	ALFA	NC_000005.10 - 152392277	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)
rs17448093	Oct 08, 2004 (123)
rs52827981	Sep 21, 2007 (128)
rs386596739	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
406324, ss78383809, ss109520534, ss162779158, ss253889065, ss278535795, ss481115726, ss491876659, ss1397431521, ss1591804668, ss1712811517, ss3643532778	NC_000005.8:151752030:T:C	NC_000005.10:152392276:T:C	(self)
29493104, 16412536, 11682909, 8063870, 38672, 7571854, 4508886, 591201, 7285534, 17129836, 219346, 6222526, 106004, 7566893, 15290011, 4046325, 32764307, 16412536, 3637698, ss233202659, ss240315201, ss342195182, ss481137747, ss482127366, ss485352937, ss490914674, ss491374500, ss537299059, ss652707064, ss778926471, ss780843106, ss783122187, ss783526513, ss784078941, ss832380981, ss834387955, ss974457853, ss982270352, ss1067473085, ss1073150657, ss1317794042, ss1430543519, ss1581406915, ss1584042211, ss1614323682, ss1657317715, ss1688053315, ss1711103586, ss1752557275, ss1752557276, ss1917796543, ss1925524963, ss1946160128, ss1958836048, ss1966655895, ss1970240769, ss2023371356, ss2151529971, ss2634358664, ss2707100558, ss2735376306, ss2747495827, ss2832426660, ss2985342384, ss2998022692, ss3022544400, ss3346690158, ss3629374923, ss3629374924, ss3632281354, ss3633394892, ss3634116329, ss3635029918, ss3635029919, ss3635797942, ss3636742903, ss3637550606, ss3638589537, ss3640737212, ss3640737213, ss3644893143, ss3646326947, ss3653048878, ss3654112734, ss3665944661, ss3732937661, ss3744542760, ss3745330094, ss3745330095, ss3764239998, ss3772824011, ss3772824012, ss3824133123, ss3825684214, ss3829574891, ss3838260474, ss3863273031, ss3909952442, ss3984321278, ss3984321279, ss3984556631, ss3986326200, ss4017239179, ss5174795000, ss5237382264, ss5315096634, ss5508260675, ss5624151935, ss5624605510, ss5639167449, ss5799666292, ss5800125264, ss5835836952, ss5847277193, ss5848070521, ss5848639172, ss5967649625, ss5979759350, ss5981231448	NC_000005.9:151771837:T:C	NC_000005.10:152392276:T:C	(self)
38780049, 208593537, 2998076, 463114, 45900441, 521124085, 975737316, ss2279364905, ss3025467468, ss3715981650, ss3726283827, ss3771241645, ss3807408286, ss3843703674, ss4683746528, ss5237017531, ss5237187959, ss5266347475, ss5464261941, ss5551254114, ss5712063337, ss5806888273, ss5896910029	NC_000005.10:152392276:T:C	NC_000005.10:152392276:T:C	(self)
ss6861805, ss24458014, ss48427704, ss65728573, ss68954195, ss74813131, ss74881473, ss120035915, ss159710666, ss160732565, ss173891788, ss244302198	NT_029289.11:12934764:T:C	NC_000005.10:152392276:T:C	(self)

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

2 citations for rs4958531

PMID	Title	Author	Year	Journal
26167956	Genome-wide pathway analysis for diabetic nephropathy in type 1 diabetes.	Lee YH et al.	2016	Endocrine research
31231424	Genetic and Epigenetic Studies in Diabetic Kidney Disease.	Gu HF et al.	2019	Frontiers in 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

rs4958531