Name: rs4649378
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.

rs4649378

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:232458518 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.127999 (33880/264690, TOPMED)
C=0.096507 (13525/140146, GnomAD)
T=0.38512 (10882/28256, 14KJPN) (+ 17 more)
C=0.06231 (1177/18890, ALFA)
T=0.38073 (6381/16760, 8.3KJPN)
C=0.2374 (1520/6404, 1000G_30x)
C=0.2440 (1222/5008, 1000G)
C=0.0281 (126/4480, Estonian)
C=0.0324 (125/3854, ALSPAC)
C=0.0254 (94/3708, TWINSUK)
T=0.4177 (1224/2930, KOREAN)
T=0.4127 (756/1832, Korea1K)
C=0.029 (29/998, GoNL)
C=0.077 (46/600, NorthernSweden)
C=0.191 (62/324, HapMap)
T=0.369 (87/236, SGDP_PRJ)
C=0.056 (12/216, Qatari)
T=0.495 (106/214, Vietnamese)
C=0.03 (1/40, GENOME_DK)
T=0.39 (7/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SIPA1L2 : Intron 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18890	T=0.93769	C=0.06231
European	Sub	14286	T=0.97193	C=0.02807
African	Sub	2946	T=0.8785	C=0.1215
African Others	Sub	114	T=0.860	C=0.140
African American	Sub	2832	T=0.8792	C=0.1208
Asian	Sub	112	T=0.420	C=0.580
East Asian	Sub	86	T=0.43	C=0.57
Other Asian	Sub	26	T=0.38	C=0.62
Latin American 1	Sub	146	T=0.863	C=0.137
Latin American 2	Sub	610	T=0.649	C=0.351
South Asian	Sub	98	T=0.73	C=0.27
Other	Sub	692	T=0.866	C=0.134

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.872001	C=0.127999
gnomAD - Genomes	Global	Study-wide	140146	T=0.903493	C=0.096507
gnomAD - Genomes	European	Sub	75906	T=0.96890	C=0.03110
gnomAD - Genomes	African	Sub	41994	T=0.87601	C=0.12399
gnomAD - Genomes	American	Sub	13644	T=0.72845	C=0.27155
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9557	C=0.0443
gnomAD - Genomes	East Asian	Sub	3128	T=0.4182	C=0.5818
gnomAD - Genomes	Other	Sub	2152	T=0.8676	C=0.1324
14KJPN	JAPANESE	Study-wide	28256	T=0.38512	C=0.61488
Allele Frequency Aggregator	Total	Global	18890	T=0.93769	C=0.06231
Allele Frequency Aggregator	European	Sub	14286	T=0.97193	C=0.02807
Allele Frequency Aggregator	African	Sub	2946	T=0.8785	C=0.1215
Allele Frequency Aggregator	Other	Sub	692	T=0.866	C=0.134
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.649	C=0.351
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.863	C=0.137
Allele Frequency Aggregator	Asian	Sub	112	T=0.420	C=0.580
Allele Frequency Aggregator	South Asian	Sub	98	T=0.73	C=0.27
8.3KJPN	JAPANESE	Study-wide	16760	T=0.38073	C=0.61927
1000Genomes_30x	Global	Study-wide	6404	T=0.7626	C=0.2374
1000Genomes_30x	African	Sub	1786	T=0.8813	C=0.1187
1000Genomes_30x	Europe	Sub	1266	T=0.9652	C=0.0348
1000Genomes_30x	South Asian	Sub	1202	T=0.7180	C=0.2820
1000Genomes_30x	East Asian	Sub	1170	T=0.4504	C=0.5496
1000Genomes_30x	American	Sub	980	T=0.712	C=0.288
1000Genomes	Global	Study-wide	5008	T=0.7560	C=0.2440
1000Genomes	African	Sub	1322	T=0.8790	C=0.1210
1000Genomes	East Asian	Sub	1008	T=0.4464	C=0.5536
1000Genomes	Europe	Sub	1006	T=0.9632	C=0.0368
1000Genomes	South Asian	Sub	978	T=0.724	C=0.276
1000Genomes	American	Sub	694	T=0.716	C=0.284
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9719	C=0.0281
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9676	C=0.0324
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9746	C=0.0254
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4177	A=0.0000, C=0.5823, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.4127	C=0.5873
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.971	C=0.029
Northern Sweden	ACPOP	Study-wide	600	T=0.923	C=0.077
HapMap	Global	Study-wide	324	T=0.809	C=0.191
HapMap	American	Sub	120	T=0.992	C=0.008
HapMap	African	Sub	118	T=0.898	C=0.102
HapMap	Asian	Sub	86	T=0.43	C=0.57
SGDP_PRJ	Global	Study-wide	236	T=0.369	C=0.631
Qatari	Global	Study-wide	216	T=0.944	C=0.056
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.495	C=0.505
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
Siberian	Global	Study-wide	18	T=0.39	C=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.232458518T>A
GRCh38.p14 chr 1	NC_000001.11:g.232458518T>C
GRCh38.p14 chr 1	NC_000001.11:g.232458518T>G
GRCh37.p13 chr 1	NC_000001.10:g.232594264T>A
GRCh37.p13 chr 1	NC_000001.10:g.232594264T>C
GRCh37.p13 chr 1	NC_000001.10:g.232594264T>G

Gene: SIPA1L2, signal induced proliferation associated 1 like 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SIPA1L2 transcript variant 2	NM_001377488.1:c.3095+236… NM_001377488.1:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant 1	NM_020808.5:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X8	XM_005273213.5:c.3095+236… XM_005273213.5:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X5	XM_017001896.2:c.3095+236… XM_017001896.2:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X1	XM_047426139.1:c.3095+236… XM_047426139.1:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X2	XM_047426140.1:c.3095+236… XM_047426140.1:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X3	XM_047426141.1:c.3095+236… XM_047426141.1:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X4	XM_047426142.1:c.3095+236… XM_047426142.1:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X6	XM_047426143.1:c.3095+236… XM_047426143.1:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X7	XM_047426144.1:c.3095+236… XM_047426144.1:c.3095+2369A>T	N/A	Intron Variant
SIPA1L2 transcript variant X9	XM_047426145.1:c.3095+236… XM_047426145.1:c.3095+2369A>T	N/A	Intron 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=	A	C	G
GRCh38.p14 chr 1	NC_000001.11:g.232458518=	NC_000001.11:g.232458518T>A	NC_000001.11:g.232458518T>C	NC_000001.11:g.232458518T>G
GRCh37.p13 chr 1	NC_000001.10:g.232594264=	NC_000001.10:g.232594264T>A	NC_000001.10:g.232594264T>C	NC_000001.10:g.232594264T>G
SIPA1L2 transcript variant 2	NM_001377488.1:c.3095+2369=	NM_001377488.1:c.3095+2369A>T	NM_001377488.1:c.3095+2369A>G	NM_001377488.1:c.3095+2369A>C
SIPA1L2 transcript	NM_020808.3:c.3095+2369=	NM_020808.3:c.3095+2369A>T	NM_020808.3:c.3095+2369A>G	NM_020808.3:c.3095+2369A>C
SIPA1L2 transcript variant 1	NM_020808.5:c.3095+2369=	NM_020808.5:c.3095+2369A>T	NM_020808.5:c.3095+2369A>G	NM_020808.5:c.3095+2369A>C
SIPA1L2 transcript variant X1	XM_005273209.1:c.3095+2369=	XM_005273209.1:c.3095+2369A>T	XM_005273209.1:c.3095+2369A>G	XM_005273209.1:c.3095+2369A>C
SIPA1L2 transcript variant X2	XM_005273210.1:c.3095+2369=	XM_005273210.1:c.3095+2369A>T	XM_005273210.1:c.3095+2369A>G	XM_005273210.1:c.3095+2369A>C
SIPA1L2 transcript variant X4	XM_005273211.1:c.3095+2369=	XM_005273211.1:c.3095+2369A>T	XM_005273211.1:c.3095+2369A>G	XM_005273211.1:c.3095+2369A>C
SIPA1L2 transcript variant X4	XM_005273212.1:c.3095+2369=	XM_005273212.1:c.3095+2369A>T	XM_005273212.1:c.3095+2369A>G	XM_005273212.1:c.3095+2369A>C
SIPA1L2 transcript variant X5	XM_005273213.1:c.3095+2369=	XM_005273213.1:c.3095+2369A>T	XM_005273213.1:c.3095+2369A>G	XM_005273213.1:c.3095+2369A>C
SIPA1L2 transcript variant X8	XM_005273213.5:c.3095+2369=	XM_005273213.5:c.3095+2369A>T	XM_005273213.5:c.3095+2369A>G	XM_005273213.5:c.3095+2369A>C
SIPA1L2 transcript variant X8	XM_005273214.1:c.3095+2369=	XM_005273214.1:c.3095+2369A>T	XM_005273214.1:c.3095+2369A>G	XM_005273214.1:c.3095+2369A>C
SIPA1L2 transcript variant X7	XM_005273215.1:c.3095+2369=	XM_005273215.1:c.3095+2369A>T	XM_005273215.1:c.3095+2369A>G	XM_005273215.1:c.3095+2369A>C
SIPA1L2 transcript variant X8	XM_005273216.1:c.317+2369=	XM_005273216.1:c.317+2369A>T	XM_005273216.1:c.317+2369A>G	XM_005273216.1:c.317+2369A>C
SIPA1L2 transcript variant X5	XM_017001896.2:c.3095+2369=	XM_017001896.2:c.3095+2369A>T	XM_017001896.2:c.3095+2369A>G	XM_017001896.2:c.3095+2369A>C
SIPA1L2 transcript variant X1	XM_047426139.1:c.3095+2369=	XM_047426139.1:c.3095+2369A>T	XM_047426139.1:c.3095+2369A>G	XM_047426139.1:c.3095+2369A>C
SIPA1L2 transcript variant X2	XM_047426140.1:c.3095+2369=	XM_047426140.1:c.3095+2369A>T	XM_047426140.1:c.3095+2369A>G	XM_047426140.1:c.3095+2369A>C
SIPA1L2 transcript variant X3	XM_047426141.1:c.3095+2369=	XM_047426141.1:c.3095+2369A>T	XM_047426141.1:c.3095+2369A>G	XM_047426141.1:c.3095+2369A>C
SIPA1L2 transcript variant X4	XM_047426142.1:c.3095+2369=	XM_047426142.1:c.3095+2369A>T	XM_047426142.1:c.3095+2369A>G	XM_047426142.1:c.3095+2369A>C
SIPA1L2 transcript variant X6	XM_047426143.1:c.3095+2369=	XM_047426143.1:c.3095+2369A>T	XM_047426143.1:c.3095+2369A>G	XM_047426143.1:c.3095+2369A>C
SIPA1L2 transcript variant X7	XM_047426144.1:c.3095+2369=	XM_047426144.1:c.3095+2369A>T	XM_047426144.1:c.3095+2369A>G	XM_047426144.1:c.3095+2369A>C
SIPA1L2 transcript variant X9	XM_047426145.1:c.3095+2369=	XM_047426145.1:c.3095+2369A>T	XM_047426145.1:c.3095+2369A>G	XM_047426145.1:c.3095+2369A>C

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#.

59 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6397942	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss11351085	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss19150507	Feb 27, 2004 (120)
4	PERLEGEN	ss23893878	Sep 20, 2004 (123)
5	ABI	ss44096106	Mar 13, 2006 (126)
6	HGSV	ss81833413	Dec 15, 2007 (130)
7	BGI	ss102831811	Feb 23, 2009 (131)
8	1000GENOMES	ss111933947	Jan 25, 2009 (130)
9	GMI	ss156416692	Dec 01, 2009 (131)
10	ENSEMBL	ss161228715	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss165398341	Jul 04, 2010 (132)
12	BUSHMAN	ss199746912	Jul 04, 2010 (132)
13	1000GENOMES	ss218940842	Jul 14, 2010 (132)
14	1000GENOMES	ss238551889	Jul 15, 2010 (132)
15	GMI	ss276261315	May 04, 2012 (137)
16	PJP	ss290755931	May 09, 2011 (134)
17	TISHKOFF	ss555208723	Apr 25, 2013 (138)
18	SSMP	ss648781853	Apr 25, 2013 (138)
19	EVA-GONL	ss976260005	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1068688715	Aug 21, 2014 (142)
21	1000GENOMES	ss1295085197	Aug 21, 2014 (142)
22	EVA_GENOME_DK	ss1574752032	Apr 01, 2015 (144)
23	EVA_DECODE	ss1585659891	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1602371659	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1645365692	Apr 01, 2015 (144)
26	HAMMER_LAB	ss1795883210	Sep 08, 2015 (146)
27	WEILL_CORNELL_DGM	ss1919481277	Feb 12, 2016 (147)
28	GENOMED	ss1967000009	Jul 19, 2016 (147)
29	JJLAB	ss2020265941	Sep 14, 2016 (149)
30	USC_VALOUEV	ss2148301949	Dec 20, 2016 (150)
31	HUMAN_LONGEVITY	ss2170982960	Dec 20, 2016 (150)
32	SYSTEMSBIOZJU	ss2624645362	Nov 08, 2017 (151)
33	GRF	ss2698302884	Nov 08, 2017 (151)
34	GNOMAD	ss2767449383	Nov 08, 2017 (151)
35	SWEGEN	ss2988629654	Nov 08, 2017 (151)
36	CSHL	ss3343962841	Nov 08, 2017 (151)
37	EGCUT_WGS	ss3656588535	Jul 12, 2019 (153)
38	EVA_DECODE	ss3688843822	Jul 12, 2019 (153)
39	ACPOP	ss3727957095	Jul 12, 2019 (153)
40	EVA	ss3747473471	Jul 12, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3800475233	Jul 12, 2019 (153)
42	EVA	ss3826700634	Apr 25, 2020 (154)
43	SGDP_PRJ	ss3851124607	Apr 25, 2020 (154)
44	KRGDB	ss3896473590	Apr 25, 2020 (154)
45	KOGIC	ss3946719203	Apr 25, 2020 (154)
46	TOPMED	ss4487383968	Apr 25, 2021 (155)
47	TOMMO_GENOMICS	ss5148931473	Apr 25, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5246175574	Oct 12, 2022 (156)
49	EVA	ss5325484890	Oct 12, 2022 (156)
50	HUGCELL_USP	ss5446573379	Oct 12, 2022 (156)
51	EVA	ss5506228491	Oct 12, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5520463602	Oct 12, 2022 (156)
53	SANFORD_IMAGENETICS	ss5627662877	Oct 12, 2022 (156)
54	TOMMO_GENOMICS	ss5676836678	Oct 12, 2022 (156)
55	YY_MCH	ss5801736337	Oct 12, 2022 (156)
56	EVA	ss5833416240	Oct 12, 2022 (156)
57	EVA	ss5849334059	Oct 12, 2022 (156)
58	EVA	ss5912411471	Oct 12, 2022 (156)
59	EVA	ss5939511416	Oct 12, 2022 (156)
60	1000Genomes	NC_000001.10 - 232594264	Oct 11, 2018 (152)
61	1000Genomes_30x	NC_000001.11 - 232458518	Oct 12, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 232594264	Oct 11, 2018 (152)
63	Genetic variation in the Estonian population	NC_000001.10 - 232594264	Oct 11, 2018 (152)
64	The Danish reference pan genome	NC_000001.10 - 232594264	Apr 25, 2020 (154)
65	gnomAD - Genomes	NC_000001.11 - 232458518	Apr 25, 2021 (155)
66	Genome of the Netherlands Release 5	NC_000001.10 - 232594264	Apr 25, 2020 (154)
67	HapMap	NC_000001.11 - 232458518	Apr 25, 2020 (154)
68	KOREAN population from KRGDB	NC_000001.10 - 232594264	Apr 25, 2020 (154)
69	Korean Genome Project	NC_000001.11 - 232458518	Apr 25, 2020 (154)
70	Northern Sweden	NC_000001.10 - 232594264	Jul 12, 2019 (153)
71	Qatari	NC_000001.10 - 232594264	Apr 25, 2020 (154)
72	SGDP_PRJ	NC_000001.10 - 232594264	Apr 25, 2020 (154)
73	Siberian	NC_000001.10 - 232594264	Apr 25, 2020 (154)
74	8.3KJPN	NC_000001.10 - 232594264	Apr 25, 2021 (155)
75	14KJPN	NC_000001.11 - 232458518	Oct 12, 2022 (156)
76	TopMed	NC_000001.11 - 232458518	Apr 25, 2021 (155)
77	UK 10K study - Twins	NC_000001.10 - 232594264	Oct 11, 2018 (152)
78	A Vietnamese Genetic Variation Database	NC_000001.10 - 232594264	Jul 12, 2019 (153)
79	ALFA	NC_000001.11 - 232458518	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)
rs60960191	May 26, 2008 (130)
rs74230913	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3650984, ss3896473590	NC_000001.10:232594263:T:A	NC_000001.11:232458517:T:A	(self)
ss81833413	NC_000001.8:228900998:T:C	NC_000001.11:232458517:T:C	(self)
ss111933947, ss165398341, ss199746912, ss276261315, ss290755931, ss1585659891	NC_000001.9:230660886:T:C	NC_000001.11:232458517:T:C	(self)
5955482, 3293604, 2326783, 1930664, 1440016, 3650984, 1241960, 1523207, 3141587, 818303, 6900780, 3293604, 716523, ss218940842, ss238551889, ss555208723, ss648781853, ss976260005, ss1068688715, ss1295085197, ss1574752032, ss1602371659, ss1645365692, ss1795883210, ss1919481277, ss1967000009, ss2020265941, ss2148301949, ss2624645362, ss2698302884, ss2767449383, ss2988629654, ss3343962841, ss3656588535, ss3727957095, ss3747473471, ss3826700634, ss3851124607, ss3896473590, ss5148931473, ss5325484890, ss5506228491, ss5627662877, ss5833416240, ss5939511416	NC_000001.10:232594263:T:C	NC_000001.11:232458517:T:C	(self)
7989537, 42711815, 290929, 3097204, 10673782, 50990303, 10642695032, ss2170982960, ss3688843822, ss3800475233, ss3946719203, ss4487383968, ss5246175574, ss5446573379, ss5520463602, ss5676836678, ss5801736337, ss5849334059, ss5912411471	NC_000001.11:232458517:T:C	NC_000001.11:232458517:T:C	(self)
ss11351085	NT_004433.15:232718:T:C	NC_000001.11:232458517:T:C	(self)
ss19150507	NT_004433.16:269612:T:C	NC_000001.11:232458517:T:C	(self)
ss6397942, ss23893878, ss44096106, ss102831811, ss156416692, ss161228715	NT_167186.1:26112042:T:C	NC_000001.11:232458517:T:C	(self)
3650984, ss3896473590	NC_000001.10:232594263:T:G	NC_000001.11:232458517:T: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 rs4649378

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

rs4649378