Name: rs241239
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.

rs241239

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:4527117 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.277032 (84369/304546, ALFA)
G=0.190918 (50534/264690, TOPMED)
G=0.272938 (55973/205076, GENOGRAPHIC) (+ 22 more)
G=0.205240 (28755/140104, GnomAD)
G=0.10895 (8574/78694, PAGE_STUDY)
G=0.00004 (1/28258, 14KJPN)
G=0.00006 (1/16760, 8.3KJPN)
G=0.1415 (906/6404, 1000G_30x)
G=0.1410 (706/5008, 1000G)
G=0.2833 (1269/4480, Estonian)
G=0.2849 (1098/3854, ALSPAC)
G=0.2942 (1091/3708, TWINSUK)
G=0.1809 (377/2084, HGDP_Stanford)
G=0.0016 (3/1832, Korea1K)
G=0.1360 (223/1640, HapMap)
G=0.299 (298/998, GoNL)
G=0.010 (8/788, PRJEB37584)
G=0.155 (97/626, Chileans)
G=0.280 (168/600, NorthernSweden)
G=0.273 (59/216, Qatari)
G=0.009 (2/212, Vietnamese)
A=0.447 (67/150, SGDP_PRJ)
G=0.35 (14/40, GENOME_DK)
A=0.33 (10/30, Ancient Sardinia)
A=0.39 (7/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	309582	A=0.723870	G=0.276130
European	Sub	272682	A=0.707836	G=0.292164
African	Sub	9526	A=0.9352	G=0.0648
African Others	Sub	372	A=0.987	G=0.013
African American	Sub	9154	A=0.9331	G=0.0669
Asian	Sub	3942	A=0.9995	G=0.0005
East Asian	Sub	3196	A=0.9994	G=0.0006
Other Asian	Sub	746	A=1.000	G=0.000
Latin American 1	Sub	1134	A=0.7725	G=0.2275
Latin American 2	Sub	7226	A=0.8537	G=0.1463
South Asian	Sub	5220	A=0.6847	G=0.3153
Other	Sub	9852	A=0.7729	G=0.2271

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	304546	A=0.722968	G=0.277032
Allele Frequency Aggregator	European	Sub	269588	A=0.707732	G=0.292268
Allele Frequency Aggregator	Other	Sub	9052	A=0.7712	G=0.2288
Allele Frequency Aggregator	African	Sub	8384	A=0.9352	G=0.0648
Allele Frequency Aggregator	Latin American 2	Sub	7226	A=0.8537	G=0.1463
Allele Frequency Aggregator	South Asian	Sub	5220	A=0.6847	G=0.3153
Allele Frequency Aggregator	Asian	Sub	3942	A=0.9995	G=0.0005
Allele Frequency Aggregator	Latin American 1	Sub	1134	A=0.7725	G=0.2275
TopMed	Global	Study-wide	264690	A=0.809082	G=0.190918
Genographic Project	Global	Study-wide	205076	A=0.727062	G=0.272938
gnomAD - Genomes	Global	Study-wide	140104	A=0.794760	G=0.205240
gnomAD - Genomes	European	Sub	75838	A=0.70632	G=0.29368
gnomAD - Genomes	African	Sub	42014	A=0.93724	G=0.06276
gnomAD - Genomes	American	Sub	13646	A=0.82969	G=0.17031
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.6821	G=0.3179
gnomAD - Genomes	East Asian	Sub	3130	A=0.9971	G=0.0029
gnomAD - Genomes	Other	Sub	2154	A=0.7878	G=0.2122
The PAGE Study	Global	Study-wide	78694	A=0.89105	G=0.10895
The PAGE Study	AfricanAmerican	Sub	32514	A=0.93369	G=0.06631
The PAGE Study	Mexican	Sub	10810	A=0.85328	G=0.14672
The PAGE Study	Asian	Sub	8316	A=0.9970	G=0.0030
The PAGE Study	PuertoRican	Sub	7918	A=0.7896	G=0.2104
The PAGE Study	NativeHawaiian	Sub	4534	A=0.9169	G=0.0831
The PAGE Study	Cuban	Sub	4226	A=0.7520	G=0.2480
The PAGE Study	Dominican	Sub	3828	A=0.8396	G=0.1604
The PAGE Study	CentralAmerican	Sub	2450	A=0.8759	G=0.1241
The PAGE Study	SouthAmerican	Sub	1982	A=0.8507	G=0.1493
The PAGE Study	NativeAmerican	Sub	1260	A=0.7929	G=0.2071
The PAGE Study	SouthAsian	Sub	856	A=0.718	G=0.282
14KJPN	JAPANESE	Study-wide	28258	A=0.99996	G=0.00004
8.3KJPN	JAPANESE	Study-wide	16760	A=0.99994	G=0.00006
1000Genomes_30x	Global	Study-wide	6404	A=0.8585	G=0.1415
1000Genomes_30x	African	Sub	1786	A=0.9770	G=0.0230
1000Genomes_30x	Europe	Sub	1266	A=0.7164	G=0.2836
1000Genomes_30x	South Asian	Sub	1202	A=0.7130	G=0.2870
1000Genomes_30x	East Asian	Sub	1170	A=0.9957	G=0.0043
1000Genomes_30x	American	Sub	980	A=0.841	G=0.159
1000Genomes	Global	Study-wide	5008	A=0.8590	G=0.1410
1000Genomes	African	Sub	1322	A=0.9720	G=0.0280
1000Genomes	East Asian	Sub	1008	A=0.9970	G=0.0030
1000Genomes	Europe	Sub	1006	A=0.7147	G=0.2853
1000Genomes	South Asian	Sub	978	A=0.725	G=0.275
1000Genomes	American	Sub	694	A=0.841	G=0.159
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7167	G=0.2833
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7151	G=0.2849
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7058	G=0.2942
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.8191	G=0.1809
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.983	G=0.017
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.640	G=0.360
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.677	G=0.323
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.675	G=0.325
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.992	G=0.008
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.995	G=0.005
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=1.00	G=0.00
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9984	G=0.0016
HapMap	Global	Study-wide	1640	A=0.8640	G=0.1360
HapMap	African	Sub	692	A=0.952	G=0.048
HapMap	American	Sub	600	A=0.782	G=0.218
HapMap	Europe	Sub	176	A=0.665	G=0.335
HapMap	Asian	Sub	172	A=1.000	G=0.000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.701	G=0.299
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.990	G=0.010
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.990	G=0.010
Chileans	Chilean	Study-wide	626	A=0.845	G=0.155
Northern Sweden	ACPOP	Study-wide	600	A=0.720	G=0.280
Qatari	Global	Study-wide	216	A=0.727	G=0.273
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.991	G=0.009
SGDP_PRJ	Global	Study-wide	150	A=0.447	G=0.553
The Danish reference pan genome	Danish	Study-wide	40	A=0.65	G=0.35
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	30	A=0.33	G=0.67
Siberian	Global	Study-wide	18	A=0.39	G=0.61

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.4527117A>G
GRCh37.p13 chr 1	NC_000001.10:g.4587177A>G

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
GRCh38.p14 chr 1	NC_000001.11:g.4527117=	NC_000001.11:g.4527117A>G
GRCh37.p13 chr 1	NC_000001.10:g.4587177=	NC_000001.10:g.4587177A>G

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#.

128 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss310616	Jul 12, 2000 (79)
2	SC_JCM	ss645966	Aug 11, 2000 (85)
3	KWOK	ss921102	Oct 04, 2000 (86)
4	KWOK	ss1016852	Oct 04, 2000 (86)
5	KWOK	ss1763290	Oct 18, 2000 (87)
6	KWOK	ss1818980	Oct 18, 2000 (87)
7	TSC-CSHL	ss2108926	Oct 23, 2000 (88)
8	WI_SSAHASNP	ss11357648	Jul 11, 2003 (116)
9	PERLEGEN	ss24235198	Sep 20, 2004 (123)
10	ABI	ss43943236	Mar 15, 2006 (126)
11	AFFY	ss65978942	Dec 01, 2006 (127)
12	ILLUMINA	ss66710962	Dec 01, 2006 (127)
13	ILLUMINA	ss67252698	Dec 01, 2006 (127)
14	ILLUMINA	ss67650603	Dec 01, 2006 (127)
15	PERLEGEN	ss68756965	May 18, 2007 (127)
16	ILLUMINA	ss70731042	May 25, 2008 (130)
17	ILLUMINA	ss71300522	May 18, 2007 (127)
18	ILLUMINA	ss75626239	Dec 07, 2007 (129)
19	ILLUMINA	ss79134037	Dec 15, 2007 (130)
20	KRIBB_YJKIM	ss83398891	Dec 15, 2007 (130)
21	BCMHGSC_JDW	ss87180054	Mar 23, 2008 (129)
22	HUMANGENOME_JCVI	ss99182013	Feb 06, 2009 (130)
23	1000GENOMES	ss107954865	Jan 22, 2009 (130)
24	ILLUMINA-UK	ss118459259	Feb 14, 2009 (130)
25	ILLUMINA	ss122029470	Dec 01, 2009 (131)
26	ENSEMBL	ss137767057	Dec 01, 2009 (131)
27	ENSEMBL	ss144096529	Dec 01, 2009 (131)
28	ILLUMINA	ss153910576	Dec 01, 2009 (131)
29	ILLUMINA	ss159388414	Dec 01, 2009 (131)
30	ILLUMINA	ss160545216	Dec 01, 2009 (131)
31	COMPLETE_GENOMICS	ss166023210	Jul 04, 2010 (132)
32	ILLUMINA	ss171246782	Jul 04, 2010 (132)
33	ILLUMINA	ss173332949	Jul 04, 2010 (132)
34	BCM-HGSC-SUB	ss205334168	Jul 04, 2010 (132)
35	1000GENOMES	ss230407636	Jul 14, 2010 (132)
36	BL	ss252884620	May 09, 2011 (134)
37	PJP	ss290499895	May 09, 2011 (134)
38	ILLUMINA	ss480561578	May 04, 2012 (137)
39	ILLUMINA	ss480575952	May 04, 2012 (137)
40	ILLUMINA	ss481395152	Sep 08, 2015 (146)
41	ILLUMINA	ss485076376	May 04, 2012 (137)
42	ILLUMINA	ss537088074	Sep 08, 2015 (146)
43	TISHKOFF	ss553741006	Apr 25, 2013 (138)
44	SSMP	ss647541668	Apr 25, 2013 (138)
45	ILLUMINA	ss778868392	Aug 21, 2014 (142)
46	ILLUMINA	ss782984477	Aug 21, 2014 (142)
47	ILLUMINA	ss783945424	Aug 21, 2014 (142)
48	ILLUMINA	ss825464555	Apr 01, 2015 (144)
49	ILLUMINA	ss832241122	Apr 01, 2015 (144)
50	ILLUMINA	ss832900171	Aug 21, 2014 (142)
51	ILLUMINA	ss833491001	Aug 21, 2014 (142)
52	ILLUMINA	ss834329261	Aug 21, 2014 (142)
53	EVA-GONL	ss974803661	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1067632903	Aug 21, 2014 (142)
55	1000GENOMES	ss1289476998	Aug 21, 2014 (142)
56	DDI	ss1425696071	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1573863306	Apr 01, 2015 (144)
58	EVA_DECODE	ss1584162323	Apr 01, 2015 (144)
59	EVA_UK10K_ALSPAC	ss1599441228	Apr 01, 2015 (144)
60	EVA_UK10K_TWINSUK	ss1642435261	Apr 01, 2015 (144)
61	EVA_SVP	ss1712307388	Apr 01, 2015 (144)
62	ILLUMINA	ss1751921644	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1917999750	Feb 12, 2016 (147)
64	ILLUMINA	ss1945982996	Feb 12, 2016 (147)
65	ILLUMINA	ss1958235485	Feb 12, 2016 (147)
66	JJLAB	ss2019516273	Sep 14, 2016 (149)
67	USC_VALOUEV	ss2147507252	Dec 20, 2016 (150)
68	HUMAN_LONGEVITY	ss2159624701	Dec 20, 2016 (150)
69	ILLUMINA	ss2632469839	Nov 08, 2017 (151)
70	ILLUMINA	ss2710664223	Nov 08, 2017 (151)
71	GNOMAD	ss2751038338	Nov 08, 2017 (151)
72	SWEGEN	ss2986211945	Nov 08, 2017 (151)
73	ILLUMINA	ss3021048362	Nov 08, 2017 (151)
74	BIOINF_KMB_FNS_UNIBA	ss3023522175	Nov 08, 2017 (151)
75	CSHL	ss3343293009	Nov 08, 2017 (151)
76	ILLUMINA	ss3625524032	Oct 11, 2018 (152)
77	ILLUMINA	ss3626013696	Oct 11, 2018 (152)
78	ILLUMINA	ss3630509055	Oct 11, 2018 (152)
79	ILLUMINA	ss3632878864	Oct 11, 2018 (152)
80	ILLUMINA	ss3633572522	Oct 11, 2018 (152)
81	ILLUMINA	ss3634303880	Oct 11, 2018 (152)
82	ILLUMINA	ss3635266689	Oct 11, 2018 (152)
83	ILLUMINA	ss3635980200	Oct 11, 2018 (152)
84	ILLUMINA	ss3637017045	Oct 11, 2018 (152)
85	ILLUMINA	ss3637734166	Oct 11, 2018 (152)
86	ILLUMINA	ss3638888509	Oct 11, 2018 (152)
87	ILLUMINA	ss3639441008	Oct 11, 2018 (152)
88	ILLUMINA	ss3640011245	Oct 11, 2018 (152)
89	ILLUMINA	ss3642748343	Oct 11, 2018 (152)
90	ILLUMINA	ss3644478851	Oct 11, 2018 (152)
91	URBANLAB	ss3646588565	Oct 11, 2018 (152)
92	ILLUMINA	ss3651371060	Oct 11, 2018 (152)
93	EGCUT_WGS	ss3654312927	Jul 12, 2019 (153)
94	EVA_DECODE	ss3686061037	Jul 12, 2019 (153)
95	ILLUMINA	ss3724991491	Jul 12, 2019 (153)
96	ACPOP	ss3726746385	Jul 12, 2019 (153)
97	ILLUMINA	ss3744041181	Jul 12, 2019 (153)
98	ILLUMINA	ss3744604868	Jul 12, 2019 (153)
99	EVA	ss3745764375	Jul 12, 2019 (153)
100	PAGE_CC	ss3770781365	Jul 12, 2019 (153)
101	ILLUMINA	ss3772106523	Jul 12, 2019 (153)
102	KHV_HUMAN_GENOMES	ss3798785733	Jul 12, 2019 (153)
103	EVA	ss3825998007	Apr 25, 2020 (154)
104	EVA	ss3836386172	Apr 25, 2020 (154)
105	EVA	ss3841790372	Apr 25, 2020 (154)
106	HGDP	ss3847322837	Apr 25, 2020 (154)
107	SGDP_PRJ	ss3848084468	Apr 25, 2020 (154)
108	KOGIC	ss3943706849	Apr 25, 2020 (154)
109	EVA	ss3984451272	Apr 25, 2021 (155)
110	EVA	ss3984775479	Apr 25, 2021 (155)
111	EVA	ss4016890502	Apr 25, 2021 (155)
112	TOPMED	ss4437498335	Apr 25, 2021 (155)
113	TOMMO_GENOMICS	ss5142230370	Apr 25, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5240990832	Oct 12, 2022 (156)
115	GENOGRAPHIC	ss5314461203	Oct 12, 2022 (156)
116	EVA	ss5314588541	Oct 12, 2022 (156)
117	EVA	ss5316414182	Oct 12, 2022 (156)
118	HUGCELL_USP	ss5442214021	Oct 12, 2022 (156)
119	EVA	ss5505754015	Oct 12, 2022 (156)
120	1000G_HIGH_COVERAGE	ss5512665968	Oct 12, 2022 (156)
121	SANFORD_IMAGENETICS	ss5624822057	Oct 12, 2022 (156)
122	TOMMO_GENOMICS	ss5666453285	Oct 12, 2022 (156)
123	EVA	ss5799473384	Oct 12, 2022 (156)
124	YY_MCH	ss5800278193	Oct 12, 2022 (156)
125	EVA	ss5831469321	Oct 12, 2022 (156)
126	EVA	ss5848762766	Oct 12, 2022 (156)
127	EVA	ss5906836532	Oct 12, 2022 (156)
128	EVA	ss5936647296	Oct 12, 2022 (156)
129	1000Genomes	NC_000001.10 - 4587177	Oct 11, 2018 (152)
130	1000Genomes_30x	NC_000001.11 - 4527117	Oct 12, 2022 (156)
131	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 4587177	Oct 11, 2018 (152)
132	Chileans	NC_000001.10 - 4587177	Apr 25, 2020 (154)
133	Genetic variation in the Estonian population	NC_000001.10 - 4587177	Oct 11, 2018 (152)
134	Genographic Project	NC_000001.11 - 4527117	Oct 12, 2022 (156)
135	The Danish reference pan genome	NC_000001.10 - 4587177	Apr 25, 2020 (154)
136	gnomAD - Genomes	NC_000001.11 - 4527117	Apr 25, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000001.10 - 4587177	Apr 25, 2020 (154)
138	HGDP-CEPH-db Supplement 1	NC_000001.9 - 4487037	Apr 25, 2020 (154)
139	HapMap	NC_000001.11 - 4527117	Apr 25, 2020 (154)
140	Korean Genome Project	NC_000001.11 - 4527117	Apr 25, 2020 (154)
141	Northern Sweden	NC_000001.10 - 4587177	Jul 12, 2019 (153)
142	The PAGE Study	NC_000001.11 - 4527117	Jul 12, 2019 (153)
143	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 4587177	Apr 25, 2021 (155)
144	CNV burdens in cranial meningiomas	NC_000001.10 - 4587177	Apr 25, 2021 (155)
145	Qatari	NC_000001.10 - 4587177	Apr 25, 2020 (154)
146	SGDP_PRJ	NC_000001.10 - 4587177	Apr 25, 2020 (154)
147	Siberian	NC_000001.10 - 4587177	Apr 25, 2020 (154)
148	8.3KJPN	NC_000001.10 - 4587177	Apr 25, 2021 (155)
149	14KJPN	NC_000001.11 - 4527117	Oct 12, 2022 (156)
150	TopMed	NC_000001.11 - 4527117	Apr 25, 2021 (155)
151	UK 10K study - Twins	NC_000001.10 - 4587177	Oct 11, 2018 (152)
152	A Vietnamese Genetic Variation Database	NC_000001.10 - 4587177	Jul 12, 2019 (153)
153	ALFA	NC_000001.11 - 4527117	Apr 25, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs476512	Sep 19, 2000 (85)
rs17344642	Oct 07, 2004 (123)
rs56575716	May 25, 2008 (130)
rs60193089	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638888509, ss3639441008	NC_000001.8:4497549:A:G	NC_000001.11:4527116:A:G	(self)
729, ss87180054, ss107954865, ss118459259, ss160545216, ss166023210, ss205334168, ss252884620, ss290499895, ss480561578, ss825464555, ss1584162323, ss1712307388, ss3642748343, ss3847322837	NC_000001.9:4487036:A:G	NC_000001.11:4527116:A:G	(self)
145877, 68647, 478, 51175, 1370540, 30112, 31250, 1406, 572, 41680, 101448, 23606, 199677, 68647, 15149, ss230407636, ss480575952, ss481395152, ss485076376, ss537088074, ss553741006, ss647541668, ss778868392, ss782984477, ss783945424, ss832241122, ss832900171, ss833491001, ss834329261, ss974803661, ss1067632903, ss1289476998, ss1425696071, ss1573863306, ss1599441228, ss1642435261, ss1751921644, ss1917999750, ss1945982996, ss1958235485, ss2019516273, ss2147507252, ss2632469839, ss2710664223, ss2751038338, ss2986211945, ss3021048362, ss3343293009, ss3625524032, ss3626013696, ss3630509055, ss3632878864, ss3633572522, ss3634303880, ss3635266689, ss3635980200, ss3637017045, ss3637734166, ss3640011245, ss3644478851, ss3651371060, ss3654312927, ss3726746385, ss3744041181, ss3744604868, ss3745764375, ss3772106523, ss3825998007, ss3836386172, ss3848084468, ss3984451272, ss3984775479, ss4016890502, ss5142230370, ss5314588541, ss5316414182, ss5505754015, ss5624822057, ss5799473384, ss5831469321, ss5936647296	NC_000001.10:4587176:A:G	NC_000001.11:4527116:A:G	(self)
191903, 44096, 1028418, 4392, 84850, 2834, 290389, 1104670, 7150609929, ss2159624701, ss3023522175, ss3646588565, ss3686061037, ss3724991491, ss3770781365, ss3798785733, ss3841790372, ss3943706849, ss4437498335, ss5240990832, ss5314461203, ss5442214021, ss5512665968, ss5666453285, ss5800278193, ss5848762766, ss5906836532	NC_000001.11:4527116:A:G	NC_000001.11:4527116:A:G	(self)
ss11357648	NT_004547.15:590809:A:G	NC_000001.11:4527116:A:G	(self)
ss310616, ss645966, ss921102, ss1016852, ss1763290, ss1818980, ss2108926, ss24235198, ss43943236, ss65978942, ss66710962, ss67252698, ss67650603, ss68756965, ss70731042, ss71300522, ss75626239, ss79134037, ss83398891, ss99182013, ss122029470, ss137767057, ss144096529, ss153910576, ss159388414, ss171246782, ss173332949	NT_021937.19:591908:A:G	NC_000001.11:4527116:A:G	(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 rs241239

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs241239