Name: rs56161247
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.

rs56161247

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:181556630 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.379969 (100574/264690, TOPMED)
A=0.45707 (12915/28256, 14KJPN)
A=0.38948 (9050/23236, ALFA) (+ 13 more)
A=0.45501 (7626/16760, 8.3KJPN)
A=0.3478 (2227/6404, 1000G_30x)
A=0.3528 (1767/5008, 1000G)
A=0.4786 (2144/4480, Estonian)
A=0.4834 (1863/3854, ALSPAC)
G=0.4976 (1845/3708, TWINSUK)
A=0.4451 (1304/2930, KOREAN)
A=0.490 (489/998, GoNL)
A=0.482 (289/600, NorthernSweden)
G=0.309 (107/346, SGDP_PRJ)
A=0.361 (78/216, Qatari)
G=0.43 (18/42, Siberian)
A=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CACNA1E : 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	23236	G=0.61052	A=0.38948, C=0.00000, T=0.00000
European	Sub	18996	G=0.56364	A=0.43636, C=0.00000, T=0.00000
African	Sub	2198	G=0.9677	A=0.0323, C=0.0000, T=0.0000
African Others	Sub	102	G=0.990	A=0.010, C=0.000, T=0.000
African American	Sub	2096	G=0.9666	A=0.0334, C=0.0000, T=0.0000
Asian	Sub	46	G=0.80	A=0.20, C=0.00, T=0.00
East Asian	Sub	36	G=0.83	A=0.17, C=0.00, T=0.00
Other Asian	Sub	10	G=0.7	A=0.3, C=0.0, T=0.0
Latin American 1	Sub	76	G=0.93	A=0.07, C=0.00, T=0.00
Latin American 2	Sub	284	G=0.898	A=0.102, C=0.000, T=0.000
South Asian	Sub	56	G=0.84	A=0.16, C=0.00, T=0.00
Other	Sub	1580	G=0.5962	A=0.4038, C=0.0000, 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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.620031	A=0.379969
14KJPN	JAPANESE	Study-wide	28256	G=0.54293	A=0.45707
Allele Frequency Aggregator	Total	Global	23236	G=0.61052	A=0.38948, C=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	18996	G=0.56364	A=0.43636, C=0.00000, T=0.00000
Allele Frequency Aggregator	African	Sub	2198	G=0.9677	A=0.0323, C=0.0000, T=0.0000
Allele Frequency Aggregator	Other	Sub	1580	G=0.5962	A=0.4038, C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	284	G=0.898	A=0.102, C=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	76	G=0.93	A=0.07, C=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	56	G=0.84	A=0.16, C=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	46	G=0.80	A=0.20, C=0.00, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	G=0.54499	A=0.45501
1000Genomes_30x	Global	Study-wide	6404	G=0.6522	A=0.3478
1000Genomes_30x	African	Sub	1786	G=0.8567	A=0.1433
1000Genomes_30x	Europe	Sub	1266	G=0.5150	A=0.4850
1000Genomes_30x	South Asian	Sub	1202	G=0.6498	A=0.3502
1000Genomes_30x	East Asian	Sub	1170	G=0.5504	A=0.4496
1000Genomes_30x	American	Sub	980	G=0.582	A=0.418
1000Genomes	Global	Study-wide	5008	G=0.6472	A=0.3528
1000Genomes	African	Sub	1322	G=0.8563	A=0.1437
1000Genomes	East Asian	Sub	1008	G=0.5476	A=0.4524
1000Genomes	Europe	Sub	1006	G=0.5179	A=0.4821
1000Genomes	South Asian	Sub	978	G=0.650	A=0.350
1000Genomes	American	Sub	694	G=0.576	A=0.424
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5214	A=0.4786
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5166	A=0.4834
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4976	A=0.5024
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.5549	A=0.4451
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.510	A=0.490
Northern Sweden	ACPOP	Study-wide	600	G=0.518	A=0.482
SGDP_PRJ	Global	Study-wide	346	G=0.309	A=0.691
Qatari	Global	Study-wide	216	G=0.639	A=0.361
Siberian	Global	Study-wide	42	G=0.43	A=0.57
The Danish reference pan genome	Danish	Study-wide	40	G=0.57	A=0.42

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.181556630G>A
GRCh38.p14 chr 1	NC_000001.11:g.181556630G>C
GRCh38.p14 chr 1	NC_000001.11:g.181556630G>T
GRCh37.p13 chr 1	NC_000001.10:g.181525766G>A
GRCh37.p13 chr 1	NC_000001.10:g.181525766G>C
GRCh37.p13 chr 1	NC_000001.10:g.181525766G>T
CACNA1E RefSeqGene	NG_050616.1:g.78320G>A
CACNA1E RefSeqGene	NG_050616.1:g.78320G>C
CACNA1E RefSeqGene	NG_050616.1:g.78320G>T

Gene: CACNA1E, calcium voltage-gated channel subunit alpha1 E (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNA1E transcript variant 3	NM_000721.4:c.513-21136G>A	N/A	Intron Variant
CACNA1E transcript variant 1	NM_001205293.3:c.513-2113… NM_001205293.3:c.513-21136G>A	N/A	Intron Variant
CACNA1E transcript variant 2	NM_001205294.2:c.513-2113… NM_001205294.2:c.513-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X1	XM_017002243.2:c.948-2113… XM_017002243.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X2	XM_017002244.2:c.948-2113… XM_017002244.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X3	XM_017002245.2:c.948-2113… XM_017002245.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X4	XM_017002246.2:c.948-2113… XM_017002246.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X5	XM_017002247.2:c.948-2113… XM_017002247.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X6	XM_017002248.2:c.948-2113… XM_017002248.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X8	XM_017002249.2:c.948-2113… XM_017002249.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X9	XM_017002250.2:c.948-2113… XM_017002250.2:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X10	XM_017002251.1:c.948-2113… XM_017002251.1:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X7	XM_047429979.1:c.948-2113… XM_047429979.1:c.948-21136G>A	N/A	Intron Variant
CACNA1E transcript variant X11	XM_047429980.1:c.948-2113… XM_047429980.1:c.948-21136G>A	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	G=	A	C	T
GRCh38.p14 chr 1	NC_000001.11:g.181556630=	NC_000001.11:g.181556630G>A	NC_000001.11:g.181556630G>C	NC_000001.11:g.181556630G>T
GRCh37.p13 chr 1	NC_000001.10:g.181525766=	NC_000001.10:g.181525766G>A	NC_000001.10:g.181525766G>C	NC_000001.10:g.181525766G>T
CACNA1E RefSeqGene	NG_050616.1:g.78320=	NG_050616.1:g.78320G>A	NG_050616.1:g.78320G>C	NG_050616.1:g.78320G>T
CACNA1E transcript variant 3	NM_000721.3:c.513-21136=	NM_000721.3:c.513-21136G>A	NM_000721.3:c.513-21136G>C	NM_000721.3:c.513-21136G>T
CACNA1E transcript variant 3	NM_000721.4:c.513-21136=	NM_000721.4:c.513-21136G>A	NM_000721.4:c.513-21136G>C	NM_000721.4:c.513-21136G>T
CACNA1E transcript variant 1	NM_001205293.1:c.513-21136=	NM_001205293.1:c.513-21136G>A	NM_001205293.1:c.513-21136G>C	NM_001205293.1:c.513-21136G>T
CACNA1E transcript variant 1	NM_001205293.3:c.513-21136=	NM_001205293.3:c.513-21136G>A	NM_001205293.3:c.513-21136G>C	NM_001205293.3:c.513-21136G>T
CACNA1E transcript variant 2	NM_001205294.1:c.513-21136=	NM_001205294.1:c.513-21136G>A	NM_001205294.1:c.513-21136G>C	NM_001205294.1:c.513-21136G>T
CACNA1E transcript variant 2	NM_001205294.2:c.513-21136=	NM_001205294.2:c.513-21136G>A	NM_001205294.2:c.513-21136G>C	NM_001205294.2:c.513-21136G>T
CACNA1E transcript variant X1	XM_005245477.1:c.513-21136=	XM_005245477.1:c.513-21136G>A	XM_005245477.1:c.513-21136G>C	XM_005245477.1:c.513-21136G>T
CACNA1E transcript variant X1	XM_017002243.2:c.948-21136=	XM_017002243.2:c.948-21136G>A	XM_017002243.2:c.948-21136G>C	XM_017002243.2:c.948-21136G>T
CACNA1E transcript variant X2	XM_017002244.2:c.948-21136=	XM_017002244.2:c.948-21136G>A	XM_017002244.2:c.948-21136G>C	XM_017002244.2:c.948-21136G>T
CACNA1E transcript variant X3	XM_017002245.2:c.948-21136=	XM_017002245.2:c.948-21136G>A	XM_017002245.2:c.948-21136G>C	XM_017002245.2:c.948-21136G>T
CACNA1E transcript variant X4	XM_017002246.2:c.948-21136=	XM_017002246.2:c.948-21136G>A	XM_017002246.2:c.948-21136G>C	XM_017002246.2:c.948-21136G>T
CACNA1E transcript variant X5	XM_017002247.2:c.948-21136=	XM_017002247.2:c.948-21136G>A	XM_017002247.2:c.948-21136G>C	XM_017002247.2:c.948-21136G>T
CACNA1E transcript variant X6	XM_017002248.2:c.948-21136=	XM_017002248.2:c.948-21136G>A	XM_017002248.2:c.948-21136G>C	XM_017002248.2:c.948-21136G>T
CACNA1E transcript variant X8	XM_017002249.2:c.948-21136=	XM_017002249.2:c.948-21136G>A	XM_017002249.2:c.948-21136G>C	XM_017002249.2:c.948-21136G>T
CACNA1E transcript variant X9	XM_017002250.2:c.948-21136=	XM_017002250.2:c.948-21136G>A	XM_017002250.2:c.948-21136G>C	XM_017002250.2:c.948-21136G>T
CACNA1E transcript variant X10	XM_017002251.1:c.948-21136=	XM_017002251.1:c.948-21136G>A	XM_017002251.1:c.948-21136G>C	XM_017002251.1:c.948-21136G>T
CACNA1E transcript variant X7	XM_047429979.1:c.948-21136=	XM_047429979.1:c.948-21136G>A	XM_047429979.1:c.948-21136G>C	XM_047429979.1:c.948-21136G>T
CACNA1E transcript variant X11	XM_047429980.1:c.948-21136=	XM_047429980.1:c.948-21136G>A	XM_047429980.1:c.948-21136G>C	XM_047429980.1:c.948-21136G>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#.

69 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77550550	Dec 07, 2007 (129)
2	BGI	ss106614854	Feb 04, 2009 (130)
3	COMPLETE_GENOMICS	ss165514124	Jul 04, 2010 (132)
4	BCM-HGSC-SUB	ss205223688	Jul 04, 2010 (132)
5	1000GENOMES	ss218751121	Jul 14, 2010 (132)
6	1000GENOMES	ss230805724	Jul 14, 2010 (132)
7	1000GENOMES	ss238437026	Jul 15, 2010 (132)
8	BL	ss253649774	May 09, 2011 (134)
9	GMI	ss276123461	May 04, 2012 (137)
10	GMI	ss284185529	Apr 25, 2013 (138)
11	ILLUMINA	ss482159162	May 04, 2012 (137)
12	ILLUMINA	ss484341204	May 04, 2012 (137)
13	ILLUMINA	ss536524207	Sep 08, 2015 (146)
14	TISHKOFF	ss554916272	Apr 25, 2013 (138)
15	SSMP	ss648538150	Apr 25, 2013 (138)
16	ILLUMINA	ss780617258	Sep 08, 2015 (146)
17	ILLUMINA	ss782616850	Sep 08, 2015 (146)
18	ILLUMINA	ss836110776	Sep 08, 2015 (146)
19	EVA-GONL	ss975878233	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1068412377	Aug 21, 2014 (142)
21	1000GENOMES	ss1293672323	Aug 21, 2014 (142)
22	DDI	ss1426036358	Apr 01, 2015 (144)
23	EVA_GENOME_DK	ss1574517223	Apr 01, 2015 (144)
24	EVA_DECODE	ss1585268880	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1601613539	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1644607572	Apr 01, 2015 (144)
27	HAMMER_LAB	ss1795362512	Sep 08, 2015 (146)
28	WEILL_CORNELL_DGM	ss1919115194	Feb 12, 2016 (147)
29	GENOMED	ss1966912383	Jul 19, 2016 (147)
30	JJLAB	ss2020073709	Sep 14, 2016 (149)
31	USC_VALOUEV	ss2148101415	Dec 20, 2016 (150)
32	HUMAN_LONGEVITY	ss2168066751	Dec 20, 2016 (150)
33	SYSTEMSBIOZJU	ss2624545303	Nov 08, 2017 (151)
34	ILLUMINA	ss2632600439	Nov 08, 2017 (151)
35	GRF	ss2698083177	Nov 08, 2017 (151)
36	GNOMAD	ss2763431692	Nov 08, 2017 (151)
37	SWEGEN	ss2988052721	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3023796583	Nov 08, 2017 (151)
39	CSHL	ss3343798591	Nov 08, 2017 (151)
40	ILLUMINA	ss3626254465	Oct 11, 2018 (152)
41	ILLUMINA	ss3630631833	Oct 11, 2018 (152)
42	ILLUMINA	ss3641627032	Oct 11, 2018 (152)
43	EGCUT_WGS	ss3656001591	Jul 12, 2019 (153)
44	EVA_DECODE	ss3688145828	Jul 12, 2019 (153)
45	ACPOP	ss3727647989	Jul 12, 2019 (153)
46	EVA	ss3747036173	Jul 12, 2019 (153)
47	PACBIO	ss3783621011	Jul 12, 2019 (153)
48	PACBIO	ss3789243720	Jul 12, 2019 (153)
49	PACBIO	ss3794115853	Jul 12, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3800037127	Jul 12, 2019 (153)
51	EVA	ss3826521401	Apr 25, 2020 (154)
52	EVA	ss3836657253	Apr 25, 2020 (154)
53	EVA	ss3842067511	Apr 25, 2020 (154)
54	SGDP_PRJ	ss3850389849	Apr 25, 2020 (154)
55	KRGDB	ss3895648326	Apr 25, 2020 (154)
56	TOPMED	ss4474887869	Apr 25, 2021 (155)
57	TOMMO_GENOMICS	ss5147324862	Apr 25, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5244939303	Oct 12, 2022 (156)
59	EVA	ss5314665276	Oct 12, 2022 (156)
60	EVA	ss5323233017	Oct 12, 2022 (156)
61	HUGCELL_USP	ss5445459721	Oct 12, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5518593748	Oct 12, 2022 (156)
63	SANFORD_IMAGENETICS	ss5626960213	Oct 12, 2022 (156)
64	TOMMO_GENOMICS	ss5674766990	Oct 12, 2022 (156)
65	YY_MCH	ss5801421390	Oct 12, 2022 (156)
66	EVA	ss5832921882	Oct 12, 2022 (156)
67	EVA	ss5849182482	Oct 12, 2022 (156)
68	EVA	ss5910990124	Oct 12, 2022 (156)
69	EVA	ss5938773469	Oct 12, 2022 (156)
70	1000Genomes	NC_000001.10 - 181525766	Oct 11, 2018 (152)
71	1000Genomes_30x	NC_000001.11 - 181556630	Oct 12, 2022 (156)
72	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 181525766	Oct 11, 2018 (152)
73	Genetic variation in the Estonian population	NC_000001.10 - 181525766	Oct 11, 2018 (152)
74	The Danish reference pan genome	NC_000001.10 - 181525766	Apr 25, 2020 (154)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32433338 (NC_000001.11:181556629:G:A 54678/140096) Row 32433339 (NC_000001.11:181556629:G:T 1/140150)	-	Apr 25, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 32433338 (NC_000001.11:181556629:G:A 54678/140096) Row 32433339 (NC_000001.11:181556629:G:T 1/140150)	-	Apr 25, 2021 (155)
77	Genome of the Netherlands Release 5	NC_000001.10 - 181525766	Apr 25, 2020 (154)
78	KOREAN population from KRGDB	NC_000001.10 - 181525766	Apr 25, 2020 (154)
79	Northern Sweden	NC_000001.10 - 181525766	Jul 12, 2019 (153)
80	Qatari	NC_000001.10 - 181525766	Apr 25, 2020 (154)
81	SGDP_PRJ	NC_000001.10 - 181525766	Apr 25, 2020 (154)
82	Siberian	NC_000001.10 - 181525766	Apr 25, 2020 (154)
83	8.3KJPN	NC_000001.10 - 181525766	Apr 25, 2021 (155)
84	14KJPN	NC_000001.11 - 181556630	Oct 12, 2022 (156)
85	TopMed	NC_000001.11 - 181556630	Apr 25, 2021 (155)
86	UK 10K study - Twins	NC_000001.10 - 181525766	Oct 11, 2018 (152)
87	ALFA	NC_000001.11 - 181556630	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77550550	NC_000001.8:178257422:G:A	NC_000001.11:181556629:G:A	(self)
ss165514124, ss205223688, ss253649774, ss276123461, ss284185529, ss482159162, ss1585268880	NC_000001.9:179792388:G:A	NC_000001.11:181556629:G:A	(self)
4490514, 2459777, 1739839, 1785016, 1068553, 2825720, 932854, 1157124, 2406829, 617769, 5294169, 2459777, ss218751121, ss230805724, ss238437026, ss484341204, ss536524207, ss554916272, ss648538150, ss780617258, ss782616850, ss836110776, ss975878233, ss1068412377, ss1293672323, ss1426036358, ss1574517223, ss1601613539, ss1644607572, ss1795362512, ss1919115194, ss1966912383, ss2020073709, ss2148101415, ss2624545303, ss2632600439, ss2698083177, ss2763431692, ss2988052721, ss3343798591, ss3626254465, ss3630631833, ss3641627032, ss3656001591, ss3727647989, ss3747036173, ss3783621011, ss3789243720, ss3794115853, ss3826521401, ss3836657253, ss3850389849, ss3895648326, ss5147324862, ss5314665276, ss5323233017, ss5626960213, ss5832921882, ss5938773469	NC_000001.10:181525765:G:A	NC_000001.11:181556629:G:A	(self)
6119683, 8604094, 38494204, 4323883454, ss2168066751, ss3023796583, ss3688145828, ss3800037127, ss3842067511, ss4474887869, ss5244939303, ss5445459721, ss5518593748, ss5674766990, ss5801421390, ss5849182482, ss5910990124	NC_000001.11:181556629:G:A	NC_000001.11:181556629:G:A	(self)
ss106614854	NT_004487.19:33014407:G:A	NC_000001.11:181556629:G:A	(self)
4323883454	NC_000001.11:181556629:G:C	NC_000001.11:181556629:G:C	(self)
4323883454	NC_000001.11:181556629:G:T	NC_000001.11:181556629:G: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 rs56161247

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs56161247