Name: rs4272
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.

rs4272

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:92607515 (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>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.196679 (52059/264690, TOPMED)
G=0.202562 (30996/153020, ALFA)
G=0.17676 (13911/78702, PAGE_STUDY) (+ 21 more)
G=0.12266 (3466/28258, 14KJPN)
G=0.12203 (2045/16758, 8.3KJPN)
G=0.1635 (1047/6404, 1000G_30x)
G=0.1601 (802/5008, 1000G)
G=0.2335 (1046/4480, Estonian)
G=0.2078 (801/3854, ALSPAC)
G=0.2071 (768/3708, TWINSUK)
G=0.1177 (344/2922, KOREAN)
G=0.1670 (316/1892, HapMap)
G=0.1064 (195/1832, Korea1K)
G=0.240 (240/998, GoNL)
G=0.120 (95/792, PRJEB37584)
G=0.200 (125/626, Chileans)
G=0.223 (134/600, NorthernSweden)
G=0.125 (27/216, Qatari)
G=0.099 (21/212, Vietnamese)
A=0.456 (83/182, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
A=0.50 (7/14, Siberian)
G=0.50 (7/14, Siberian)
A=0.33 (4/12, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CDK6 : 3 Prime UTR Variant
Publications: 5 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	153020	A=0.797438	G=0.202562, T=0.000000
European	Sub	127106	A=0.791033	G=0.208967, T=0.000000
African	Sub	9082	A=0.8564	G=0.1436, T=0.0000
African Others	Sub	300	A=0.893	G=0.107, T=0.000
African American	Sub	8782	A=0.8552	G=0.1448, T=0.0000
Asian	Sub	684	A=0.890	G=0.110, T=0.000
East Asian	Sub	522	A=0.889	G=0.111, T=0.000
Other Asian	Sub	162	A=0.895	G=0.105, T=0.000
Latin American 1	Sub	824	A=0.829	G=0.171, T=0.000
Latin American 2	Sub	8258	A=0.8039	G=0.1961, T=0.0000
South Asian	Sub	186	A=0.973	G=0.027, T=0.000
Other	Sub	6880	A=0.8124	G=0.1876, T=0.0000

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=0.803321	G=0.196679
Allele Frequency Aggregator	Total	Global	153020	A=0.797438	G=0.202562, T=0.000000
Allele Frequency Aggregator	European	Sub	127106	A=0.791033	G=0.208967, T=0.000000
Allele Frequency Aggregator	African	Sub	9082	A=0.8564	G=0.1436, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	8258	A=0.8039	G=0.1961, T=0.0000
Allele Frequency Aggregator	Other	Sub	6880	A=0.8124	G=0.1876, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	824	A=0.829	G=0.171, T=0.000
Allele Frequency Aggregator	Asian	Sub	684	A=0.890	G=0.110, T=0.000
Allele Frequency Aggregator	South Asian	Sub	186	A=0.973	G=0.027, T=0.000
The PAGE Study	Global	Study-wide	78702	A=0.82324	G=0.17676
The PAGE Study	AfricanAmerican	Sub	32516	A=0.82473	G=0.17527
The PAGE Study	Mexican	Sub	10810	A=0.80019	G=0.19981
The PAGE Study	Asian	Sub	8318	A=0.8724	G=0.1276
The PAGE Study	PuertoRican	Sub	7918	A=0.7935	G=0.2065
The PAGE Study	NativeHawaiian	Sub	4534	A=0.9025	G=0.0975
The PAGE Study	Cuban	Sub	4230	A=0.7759	G=0.2241
The PAGE Study	Dominican	Sub	3828	A=0.8025	G=0.1975
The PAGE Study	CentralAmerican	Sub	2450	A=0.8114	G=0.1886
The PAGE Study	SouthAmerican	Sub	1982	A=0.8047	G=0.1953
The PAGE Study	NativeAmerican	Sub	1260	A=0.7825	G=0.2175
The PAGE Study	SouthAsian	Sub	856	A=0.898	G=0.102
14KJPN	JAPANESE	Study-wide	28258	A=0.87734	G=0.12266
8.3KJPN	JAPANESE	Study-wide	16758	A=0.87797	G=0.12203
1000Genomes_30x	Global	Study-wide	6404	A=0.8365	G=0.1635
1000Genomes_30x	African	Sub	1786	A=0.8197	G=0.1803
1000Genomes_30x	Europe	Sub	1266	A=0.7662	G=0.2338
1000Genomes_30x	South Asian	Sub	1202	A=0.9118	G=0.0882
1000Genomes_30x	East Asian	Sub	1170	A=0.8932	G=0.1068
1000Genomes_30x	American	Sub	980	A=0.798	G=0.202
1000Genomes	Global	Study-wide	5008	A=0.8399	G=0.1601
1000Genomes	African	Sub	1322	A=0.8139	G=0.1861
1000Genomes	East Asian	Sub	1008	A=0.8998	G=0.1002
1000Genomes	Europe	Sub	1006	A=0.7763	G=0.2237
1000Genomes	South Asian	Sub	978	A=0.911	G=0.089
1000Genomes	American	Sub	694	A=0.794	G=0.206
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7665	G=0.2335
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7922	G=0.2078
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7929	G=0.2071
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.8823	G=0.1177
HapMap	Global	Study-wide	1892	A=0.8330	G=0.1670
HapMap	American	Sub	770	A=0.810	G=0.190
HapMap	African	Sub	692	A=0.841	G=0.159
HapMap	Asian	Sub	254	A=0.902	G=0.098
HapMap	Europe	Sub	176	A=0.801	G=0.199
Korean Genome Project	KOREAN	Study-wide	1832	A=0.8936	G=0.1064
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.760	G=0.240
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.880	G=0.120
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.880	G=0.120
Chileans	Chilean	Study-wide	626	A=0.800	G=0.200
Northern Sweden	ACPOP	Study-wide	600	A=0.777	G=0.223
Qatari	Global	Study-wide	216	A=0.875	G=0.125
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.901	G=0.099
SGDP_PRJ	Global	Study-wide	182	A=0.456	G=0.544
The Danish reference pan genome	Danish	Study-wide	40	A=0.85	G=0.15
Siberian	Global	Study-wide	14	A=0.50	G=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	12	A=0.33	G=0.67

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.92607515A>G
GRCh38.p14 chr 7	NC_000007.14:g.92607515A>T
GRCh37.p13 chr 7	NC_000007.13:g.92236829A>G
GRCh37.p13 chr 7	NC_000007.13:g.92236829A>T
CDK6 RefSeqGene (LRG_991)	NG_015888.1:g.234113T>C
CDK6 RefSeqGene (LRG_991)	NG_015888.1:g.234113T>A

Gene: CDK6, cyclin dependent kinase 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CDK6 transcript variant 1	NM_001259.8:c.*7625=	N/A	3 Prime UTR Variant
CDK6 transcript variant 2	NM_001145306.2:c.*7625=	N/A	3 Prime UTR Variant
CDK6 transcript variant X1	XM_047419716.1:c.*7625=	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.

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	A=	G	T
GRCh38.p14 chr 7	NC_000007.14:g.92607515=	NC_000007.14:g.92607515A>G	NC_000007.14:g.92607515A>T
GRCh37.p13 chr 7	NC_000007.13:g.92236829=	NC_000007.13:g.92236829A>G	NC_000007.13:g.92236829A>T
CDK6 RefSeqGene (LRG_991)	NG_015888.1:g.234113=	NG_015888.1:g.234113T>C	NG_015888.1:g.234113T>A
CDK6 transcript variant 1	NM_001259.8:c.*7625=	NM_001259.8:c.*7625T>C	NM_001259.8:c.*7625T>A
CDK6 transcript variant 1	NM_001259.7:c.*7625=	NM_001259.7:c.*7625T>C	NM_001259.7:c.*7625T>A
CDK6 transcript variant 1	NM_001259.6:c.*7625=	NM_001259.6:c.*7625T>C	NM_001259.6:c.*7625T>A
CDK6 transcript variant 2	NM_001145306.2:c.*7625=	NM_001145306.2:c.*7625T>C	NM_001145306.2:c.*7625T>A
CDK6 transcript variant 2	NM_001145306.1:c.*7625=	NM_001145306.1:c.*7625T>C	NM_001145306.1:c.*7625T>A
CDK6 transcript variant X1	XM_047419716.1:c.*7625=	XM_047419716.1:c.*7625T>C	XM_047419716.1:c.*7625T>A

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#.

119 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss4647	Sep 19, 2000 (36)
2	KWOK	ss47555	May 07, 2000 (76)
3	LEE	ss1541626	Oct 04, 2000 (86)
4	LEE	ss4428372	May 29, 2002 (106)
5	BCM_SSAHASNP	ss10383210	Jul 11, 2003 (116)
6	CGAP-GAI	ss16243772	Feb 28, 2004 (121)
7	PERLEGEN	ss24492287	Sep 20, 2004 (123)
8	PERLEGEN	ss69022213	May 17, 2007 (127)
9	AFFY	ss74852400	Aug 16, 2007 (128)
10	ILLUMINA	ss75137737	Dec 06, 2007 (129)
11	AFFY	ss76849715	Dec 06, 2007 (129)
12	KRIBB_YJKIM	ss80753407	Dec 14, 2007 (130)
13	1000GENOMES	ss112354811	Jan 25, 2009 (130)
14	1000GENOMES	ss114096615	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss116195841	Feb 14, 2009 (130)
16	KRIBB_YJKIM	ss119337385	Dec 01, 2009 (131)
17	GMI	ss155194480	Dec 01, 2009 (131)
18	ILLUMINA	ss160669330	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss162531175	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss164849365	Jul 04, 2010 (132)
21	ILLUMINA	ss173706864	Jul 04, 2010 (132)
22	1000GENOMES	ss223205084	Jul 14, 2010 (132)
23	1000GENOMES	ss234076409	Jul 15, 2010 (132)
24	1000GENOMES	ss241012094	Jul 15, 2010 (132)
25	ILLUMINA	ss244299489	Jul 04, 2010 (132)
26	GMI	ss279439206	May 04, 2012 (137)
27	GMI	ss285677582	Apr 25, 2013 (138)
28	PJP	ss293916747	May 09, 2011 (134)
29	ILLUMINA	ss410932678	Sep 17, 2011 (135)
30	ILLUMINA	ss480914161	May 04, 2012 (137)
31	ILLUMINA	ss480933271	May 04, 2012 (137)
32	ILLUMINA	ss481892023	Sep 08, 2015 (146)
33	ILLUMINA	ss485252094	May 04, 2012 (137)
34	ILLUMINA	ss537223436	Sep 08, 2015 (146)
35	TISHKOFF	ss560155067	Apr 25, 2013 (138)
36	SSMP	ss654557367	Apr 25, 2013 (138)
37	ILLUMINA	ss778532744	Sep 08, 2015 (146)
38	ILLUMINA	ss783071994	Sep 08, 2015 (146)
39	ILLUMINA	ss784029795	Sep 08, 2015 (146)
40	ILLUMINA	ss832330131	Sep 08, 2015 (146)
41	ILLUMINA	ss833989290	Sep 08, 2015 (146)
42	EVA-GONL	ss984542140	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1074797099	Aug 21, 2014 (142)
44	1000GENOMES	ss1326151566	Aug 21, 2014 (142)
45	DDI	ss1431209370	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1582307502	Apr 01, 2015 (144)
47	EVA_DECODE	ss1594119388	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1618701567	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1661695600	Apr 01, 2015 (144)
50	EVA_SVP	ss1712971261	Apr 01, 2015 (144)
51	ILLUMINA	ss1752700109	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1805112954	Sep 08, 2015 (146)
53	WEILL_CORNELL_DGM	ss1927803006	Feb 12, 2016 (147)
54	ILLUMINA	ss1959031707	Feb 12, 2016 (147)
55	JJLAB	ss2024584711	Sep 14, 2016 (149)
56	ILLUMINA	ss2094831669	Dec 20, 2016 (150)
57	ILLUMINA	ss2095201570	Dec 20, 2016 (150)
58	USC_VALOUEV	ss2152805892	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2295816253	Dec 20, 2016 (150)
60	SYSTEMSBIOZJU	ss2626784307	Nov 08, 2017 (151)
61	ILLUMINA	ss2634632536	Nov 08, 2017 (151)
62	GRF	ss2708513493	Nov 08, 2017 (151)
63	GNOMAD	ss2856217365	Nov 08, 2017 (151)
64	SWEGEN	ss3001632049	Nov 08, 2017 (151)
65	ILLUMINA	ss3022756640	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3026085916	Nov 08, 2017 (151)
67	CSHL	ss3347732260	Nov 08, 2017 (151)
68	ILLUMINA	ss3629863167	Oct 12, 2018 (152)
69	ILLUMINA	ss3632538530	Oct 12, 2018 (152)
70	ILLUMINA	ss3633470452	Oct 12, 2018 (152)
71	ILLUMINA	ss3634195730	Oct 12, 2018 (152)
72	ILLUMINA	ss3635130635	Oct 12, 2018 (152)
73	ILLUMINA	ss3635875359	Oct 12, 2018 (152)
74	ILLUMINA	ss3636864198	Oct 12, 2018 (152)
75	ILLUMINA	ss3637628359	Oct 12, 2018 (152)
76	ILLUMINA	ss3638710224	Oct 12, 2018 (152)
77	ILLUMINA	ss3640837927	Oct 12, 2018 (152)
78	ILLUMINA	ss3643645216	Oct 12, 2018 (152)
79	OMUKHERJEE_ADBS	ss3646359220	Oct 12, 2018 (152)
80	ILLUMINA	ss3653290458	Oct 12, 2018 (152)
81	EGCUT_WGS	ss3669387894	Jul 13, 2019 (153)
82	EVA_DECODE	ss3720210013	Jul 13, 2019 (153)
83	ILLUMINA	ss3726461625	Jul 13, 2019 (153)
84	ACPOP	ss3734863032	Jul 13, 2019 (153)
85	ILLUMINA	ss3745430647	Jul 13, 2019 (153)
86	EVA	ss3766869361	Jul 13, 2019 (153)
87	PAGE_CC	ss3771383320	Jul 13, 2019 (153)
88	ILLUMINA	ss3772923545	Jul 13, 2019 (153)
89	KHV_HUMAN_GENOMES	ss3810042360	Jul 13, 2019 (153)
90	EVA	ss3825723260	Apr 26, 2020 (154)
91	EVA	ss3830701440	Apr 26, 2020 (154)
92	EVA	ss3838849436	Apr 26, 2020 (154)
93	EVA	ss3844304365	Apr 26, 2020 (154)
94	SGDP_PRJ	ss3867886181	Apr 26, 2020 (154)
95	KRGDB	ss3915157714	Apr 26, 2020 (154)
96	KOGIC	ss3962093921	Apr 26, 2020 (154)
97	FSA-LAB	ss3984372490	Apr 26, 2021 (155)
98	EVA	ss3984591715	Apr 26, 2021 (155)
99	EVA	ss3985308703	Apr 26, 2021 (155)
100	TOPMED	ss4754885902	Apr 26, 2021 (155)
101	TOMMO_GENOMICS	ss5184444187	Apr 26, 2021 (155)
102	EVA	ss5237425271	Apr 26, 2021 (155)
103	1000G_HIGH_COVERAGE	ss5273866160	Oct 13, 2022 (156)
104	EVA	ss5315263501	Oct 13, 2022 (156)
105	EVA	ss5375200020	Oct 13, 2022 (156)
106	HUGCELL_USP	ss5470853172	Oct 13, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5562562370	Oct 13, 2022 (156)
108	SANFORD_IMAGENETICS	ss5624669049	Oct 13, 2022 (156)
109	SANFORD_IMAGENETICS	ss5643495445	Oct 13, 2022 (156)
110	TOMMO_GENOMICS	ss5725087860	Oct 13, 2022 (156)
111	EVA	ss5799730757	Oct 13, 2022 (156)
112	YY_MCH	ss5808886102	Oct 13, 2022 (156)
113	EVA	ss5823192873	Oct 13, 2022 (156)
114	EVA	ss5847322196	Oct 13, 2022 (156)
115	EVA	ss5848145055	Oct 13, 2022 (156)
116	EVA	ss5856004147	Oct 13, 2022 (156)
117	EVA	ss5859898971	Oct 13, 2022 (156)
118	EVA	ss5972674727	Oct 13, 2022 (156)
119	EVA	ss5979833651	Oct 13, 2022 (156)
120	1000Genomes	NC_000007.13 - 92236829	Oct 12, 2018 (152)
121	1000Genomes_30x	NC_000007.14 - 92607515	Oct 13, 2022 (156)
122	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 92236829	Oct 12, 2018 (152)
123	Chileans	NC_000007.13 - 92236829	Apr 26, 2020 (154)
124	Genetic variation in the Estonian population	NC_000007.13 - 92236829	Oct 12, 2018 (152)
125	The Danish reference pan genome	NC_000007.13 - 92236829	Apr 26, 2020 (154)
126	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269233936 (NC_000007.14:92607514:A:G 27993/140058) Row 269233937 (NC_000007.14:92607514:A:T 1/140092)	-	Apr 26, 2021 (155)
127	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269233936 (NC_000007.14:92607514:A:G 27993/140058) Row 269233937 (NC_000007.14:92607514:A:T 1/140092)	-	Apr 26, 2021 (155)
128	Genome of the Netherlands Release 5	NC_000007.13 - 92236829	Apr 26, 2020 (154)
129	HapMap	NC_000007.14 - 92607515	Apr 26, 2020 (154)
130	KOREAN population from KRGDB	NC_000007.13 - 92236829	Apr 26, 2020 (154)
131	Korean Genome Project	NC_000007.14 - 92607515	Apr 26, 2020 (154)
132	Northern Sweden	NC_000007.13 - 92236829	Jul 13, 2019 (153)
133	The PAGE Study	NC_000007.14 - 92607515	Jul 13, 2019 (153)
134	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 92236829	Apr 26, 2021 (155)
135	CNV burdens in cranial meningiomas	NC_000007.13 - 92236829	Apr 26, 2021 (155)
136	Qatari	NC_000007.13 - 92236829	Apr 26, 2020 (154)
137	SGDP_PRJ	NC_000007.13 - 92236829	Apr 26, 2020 (154)
138	Siberian	NC_000007.13 - 92236829	Apr 26, 2020 (154)
139	8.3KJPN	NC_000007.13 - 92236829	Apr 26, 2021 (155)
140	14KJPN	NC_000007.14 - 92607515	Oct 13, 2022 (156)
141	TopMed	NC_000007.14 - 92607515	Apr 26, 2021 (155)
142	UK 10K study - Twins	NC_000007.13 - 92236829	Oct 12, 2018 (152)
143	A Vietnamese Genetic Variation Database	NC_000007.13 - 92236829	Jul 13, 2019 (153)
144	ALFA	NC_000007.14 - 92607515	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)
rs3199960	Jul 03, 2002 (106)
rs11546334	Apr 05, 2004 (121)
rs17760867	Oct 08, 2004 (123)
rs57101095	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss112354811, ss114096615, ss116195841, ss162531175, ss164849365, ss279439206, ss285677582, ss293916747, ss480914161, ss1594119388, ss1712971261, ss3643645216	NC_000007.12:92074764:A:G	NC_000007.14:92607514:A:G	(self)
38158604, 21233160, 414523, 15126142, 8472441, 9480412, 22335108, 8147897, 534630, 141141, 9844936, 19903161, 5322246, 42413494, 21233160, 4736135, ss223205084, ss234076409, ss241012094, ss480933271, ss481892023, ss485252094, ss537223436, ss560155067, ss654557367, ss778532744, ss783071994, ss784029795, ss832330131, ss833989290, ss984542140, ss1074797099, ss1326151566, ss1431209370, ss1582307502, ss1618701567, ss1661695600, ss1752700109, ss1805112954, ss1927803006, ss1959031707, ss2024584711, ss2094831669, ss2095201570, ss2152805892, ss2626784307, ss2634632536, ss2708513493, ss2856217365, ss3001632049, ss3022756640, ss3347732260, ss3629863167, ss3632538530, ss3633470452, ss3634195730, ss3635130635, ss3635875359, ss3636864198, ss3637628359, ss3638710224, ss3640837927, ss3646359220, ss3653290458, ss3669387894, ss3734863032, ss3745430647, ss3766869361, ss3772923545, ss3825723260, ss3830701440, ss3838849436, ss3867886181, ss3915157714, ss3984372490, ss3984591715, ss3985308703, ss5184444187, ss5237425271, ss5315263501, ss5375200020, ss5624669049, ss5643495445, ss5799730757, ss5823192873, ss5847322196, ss5848145055, ss5972674727, ss5979833651	NC_000007.13:92236828:A:G	NC_000007.14:92607514:A:G	(self)
50088305, 3446769, 18471922, 604789, 58924964, 592263461, 1371235056, ss2295816253, ss3026085916, ss3720210013, ss3726461625, ss3771383320, ss3810042360, ss3844304365, ss3962093921, ss4754885902, ss5273866160, ss5470853172, ss5562562370, ss5725087860, ss5808886102, ss5856004147, ss5859898971	NC_000007.14:92607514:A:G	NC_000007.14:92607514:A:G	(self)
ss10383210	NT_007933.12:17471044:A:G	NC_000007.14:92607514:A:G	(self)
ss4647, ss47555, ss1541626, ss4428372, ss16243772, ss24492287, ss69022213, ss74852400, ss75137737, ss76849715, ss80753407, ss119337385, ss155194480, ss160669330, ss173706864, ss244299489, ss410932678	NT_007933.15:30269671:A:G	NC_000007.14:92607514:A:G	(self)
1371235056	NC_000007.14:92607514:A:T	NC_000007.14:92607514:A:T	(self)

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

5 citations for rs4272

PMID	Title	Author	Year	Journal
21194676	Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.	Lanktree MB et al.	2011	American journal of human genetics
21454826	Association of genetic polymorphisms in cell-cycle control genes and susceptibility to endometrial cancer among Chinese women.	Cai H et al.	2011	American journal of epidemiology
29963045	MicroRNA-Related Polymorphisms in Infectious Diseases-Tiny Changes With a Huge Impact on Viral Infections and Potential Clinical Applications.	Ellwanger JH et al.	2018	Frontiers in immunology
32831971	Investigating the GWAS-Implicated Loci for Rheumatoid Arthritis in the Pakistani Population.	Aslam MM et al.	2020	Disease markers
35088123	Genetics of rheumatoid arthritis.	Padyukov L et al.	2022	Seminars in immunopathology

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

rs4272