Name: rs471085
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.

rs471085

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:10057992 (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>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.256731 (67954/264690, TOPMED)
C=0.242582 (57803/238282, ALFA)
C=0.23310 (18201/78082, PAGE_STUDY) (+ 20 more)
C=0.00042 (12/28258, 14KJPN)
C=0.00030 (5/16760, 8.3KJPN)
C=0.2241 (1435/6404, 1000G_30x)
C=0.2190 (1097/5008, 1000G)
C=0.1926 (863/4480, Estonian)
C=0.2387 (920/3854, ALSPAC)
C=0.2500 (927/3708, TWINSUK)
C=0.0007 (2/2922, KOREAN)
C=0.0016 (3/1832, Korea1K)
C=0.264 (263/998, GoNL)
C=0.008 (6/792, PRJEB37584)
C=0.267 (160/600, NorthernSweden)
C=0.199 (65/326, HapMap)
C=0.296 (64/216, Qatari)
C=0.023 (5/216, Vietnamese)
A=0.394 (63/160, SGDP_PRJ)
C=0.38 (24/64, Ancient Sardinia)
C=0.15 (6/40, GENOME_DK)
A=0.50 (6/12, Siberian)
C=0.50 (6/12, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SNAP25-AS1 : Intron Variant
ANKEF1 : 3 Prime UTR 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	243318	A=0.756734	C=0.243266, G=0.000000
European	Sub	216876	A=0.748861	C=0.251139, G=0.000000
African	Sub	5972	A=0.7364	C=0.2636, G=0.0000
African Others	Sub	254	A=0.673	C=0.327, G=0.000
African American	Sub	5718	A=0.7392	C=0.2608, G=0.0000
Asian	Sub	3856	A=0.9933	C=0.0067, G=0.0000
East Asian	Sub	3128	A=0.9955	C=0.0045, G=0.0000
Other Asian	Sub	728	A=0.984	C=0.016, G=0.000
Latin American 1	Sub	966	A=0.756	C=0.244, G=0.000
Latin American 2	Sub	6398	A=0.8645	C=0.1355, G=0.0000
South Asian	Sub	314	A=0.758	C=0.242, G=0.000
Other	Sub	8936	A=0.7822	C=0.2178, G=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=0.743269	C=0.256731
Allele Frequency Aggregator	Total	Global	238282	A=0.757418	C=0.242582, G=0.000000
Allele Frequency Aggregator	European	Sub	213782	A=0.749029	C=0.250971, G=0.000000
Allele Frequency Aggregator	Other	Sub	8136	A=0.7840	C=0.2160, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	6398	A=0.8645	C=0.1355, G=0.0000
Allele Frequency Aggregator	African	Sub	4830	A=0.7540	C=0.2460, G=0.0000
Allele Frequency Aggregator	Asian	Sub	3856	A=0.9933	C=0.0067, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	966	A=0.756	C=0.244, G=0.000
Allele Frequency Aggregator	South Asian	Sub	314	A=0.758	C=0.242, G=0.000
The PAGE Study	Global	Study-wide	78082	A=0.76690	C=0.23310
The PAGE Study	AfricanAmerican	Sub	32266	A=0.66652	C=0.33348
The PAGE Study	Mexican	Sub	10726	A=0.84710	C=0.15290
The PAGE Study	Asian	Sub	8264	A=0.9955	C=0.0045
The PAGE Study	PuertoRican	Sub	7854	A=0.7510	C=0.2490
The PAGE Study	NativeHawaiian	Sub	4486	A=0.9195	C=0.0805
The PAGE Study	Cuban	Sub	4198	A=0.7256	C=0.2744
The PAGE Study	Dominican	Sub	3796	A=0.7163	C=0.2837
The PAGE Study	CentralAmerican	Sub	2430	A=0.8206	C=0.1794
The PAGE Study	SouthAmerican	Sub	1962	A=0.8374	C=0.1626
The PAGE Study	NativeAmerican	Sub	1250	A=0.7880	C=0.2120
The PAGE Study	SouthAsian	Sub	850	A=0.767	C=0.233
14KJPN	JAPANESE	Study-wide	28258	A=0.99958	C=0.00042
8.3KJPN	JAPANESE	Study-wide	16760	A=0.99970	C=0.00030
1000Genomes_30x	Global	Study-wide	6404	A=0.7759	C=0.2241
1000Genomes_30x	African	Sub	1786	A=0.6361	C=0.3639
1000Genomes_30x	Europe	Sub	1266	A=0.7441	C=0.2559
1000Genomes_30x	South Asian	Sub	1202	A=0.7496	C=0.2504
1000Genomes_30x	East Asian	Sub	1170	A=0.9940	C=0.0060
1000Genomes_30x	American	Sub	980	A=0.844	C=0.156
1000Genomes	Global	Study-wide	5008	A=0.7810	C=0.2190
1000Genomes	African	Sub	1322	A=0.6445	C=0.3555
1000Genomes	East Asian	Sub	1008	A=0.9931	C=0.0069
1000Genomes	Europe	Sub	1006	A=0.7386	C=0.2614
1000Genomes	South Asian	Sub	978	A=0.747	C=0.253
1000Genomes	American	Sub	694	A=0.841	C=0.159
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.8074	C=0.1926
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7613	C=0.2387
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7500	C=0.2500
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.9993	C=0.0007
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9984	C=0.0016
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.736	C=0.264
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.992	C=0.008
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.992	C=0.008
Northern Sweden	ACPOP	Study-wide	600	A=0.733	C=0.267
HapMap	Global	Study-wide	326	A=0.801	C=0.199
HapMap	African	Sub	118	A=0.686	C=0.314
HapMap	American	Sub	118	A=0.763	C=0.237
HapMap	Asian	Sub	90	A=1.00	C=0.00
Qatari	Global	Study-wide	216	A=0.704	C=0.296
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.977	C=0.023
SGDP_PRJ	Global	Study-wide	160	A=0.394	C=0.606
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	A=0.62	C=0.38
The Danish reference pan genome	Danish	Study-wide	40	A=0.85	C=0.15
Siberian	Global	Study-wide	12	A=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 20	NC_000020.11:g.10057992A>C
GRCh38.p14 chr 20	NC_000020.11:g.10057992A>G
GRCh37.p13 chr 20	NC_000020.10:g.10038640A>C
GRCh37.p13 chr 20	NC_000020.10:g.10038640A>G

Gene: ANKEF1, ankyrin repeat and EF-hand domain containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANKEF1 transcript variant 1	NM_022096.6:c.*2332=	N/A	3 Prime UTR Variant
ANKEF1 transcript variant 3	NM_001303472.2:c.*2332=	N/A	3 Prime UTR Variant
ANKEF1 transcript variant 2	NM_198798.3:c.*2332=	N/A	3 Prime UTR Variant
ANKEF1 transcript variant X1	XM_047440366.1:c.*2332=	N/A	3 Prime UTR Variant
ANKEF1 transcript variant X2	XM_047440367.1:c.*2332=	N/A	3 Prime UTR Variant

Gene: SNAP25-AS1, SNAP25 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SNAP25-AS1 transcript	NR_040710.1:n.	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	A=	C	G
GRCh38.p14 chr 20	NC_000020.11:g.10057992=	NC_000020.11:g.10057992A>C	NC_000020.11:g.10057992A>G
GRCh37.p13 chr 20	NC_000020.10:g.10038640=	NC_000020.10:g.10038640A>C	NC_000020.10:g.10038640A>G
ANKEF1 transcript variant 1	NM_022096.6:c.*2332=	NM_022096.6:c.*2332A>C	NM_022096.6:c.*2332A>G
ANKEF1 transcript variant 2	NM_198798.3:c.*2332=	NM_198798.3:c.*2332A>C	NM_198798.3:c.*2332A>G
ANKEF1 transcript variant 3	NM_001303472.2:c.*2332=	NM_001303472.2:c.*2332A>C	NM_001303472.2:c.*2332A>G
ANKEF1 transcript variant X2	XM_047440367.1:c.*2332=	XM_047440367.1:c.*2332A>C	XM_047440367.1:c.*2332A>G
ANKEF1 transcript variant X1	XM_047440366.1:c.*2332=	XM_047440366.1:c.*2332A>C	XM_047440366.1:c.*2332A>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#.

96 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss640427	Aug 11, 2000 (83)
2	SC_JCM	ss3393110	Sep 28, 2001 (100)
3	BCMHGSC_JDW	ss91637102	Mar 24, 2008 (129)
4	1000GENOMES	ss113080120	Jan 25, 2009 (130)
5	ENSEMBL	ss138209642	Dec 01, 2009 (131)
6	ILLUMINA	ss160701158	Dec 01, 2009 (131)
7	COMPLETE_GENOMICS	ss169074671	Jul 04, 2010 (132)
8	1000GENOMES	ss228255315	Jul 14, 2010 (132)
9	1000GENOMES	ss237761706	Jul 15, 2010 (132)
10	BL	ss255479541	May 09, 2011 (134)
11	GMI	ss287422235	Apr 25, 2013 (138)
12	ILLUMINA	ss481013460	May 04, 2012 (137)
13	ILLUMINA	ss481034409	May 04, 2012 (137)
14	ILLUMINA	ss482018971	Sep 08, 2015 (146)
15	ILLUMINA	ss485301710	May 04, 2012 (137)
16	ILLUMINA	ss537262058	Sep 08, 2015 (146)
17	TISHKOFF	ss566134270	Apr 25, 2013 (138)
18	SSMP	ss662005332	Apr 25, 2013 (138)
19	ILLUMINA	ss778543462	Sep 08, 2015 (146)
20	ILLUMINA	ss783096713	Sep 08, 2015 (146)
21	ILLUMINA	ss784054020	Sep 08, 2015 (146)
22	ILLUMINA	ss832355246	Sep 08, 2015 (146)
23	ILLUMINA	ss834000112	Sep 08, 2015 (146)
24	EVA-GONL	ss994536509	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1082071346	Aug 21, 2014 (142)
26	1000GENOMES	ss1364056218	Aug 21, 2014 (142)
27	DDI	ss1428995093	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1579436100	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1638407551	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1681401584	Apr 01, 2015 (144)
31	EVA_DECODE	ss1698592481	Apr 01, 2015 (144)
32	ILLUMINA	ss1752375226	Sep 08, 2015 (146)
33	HAMMER_LAB	ss1809421636	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1938046922	Feb 12, 2016 (147)
35	ILLUMINA	ss1946547087	Feb 12, 2016 (147)
36	ILLUMINA	ss1959898595	Feb 12, 2016 (147)
37	JJLAB	ss2029802662	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2158356441	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2241308795	Dec 20, 2016 (150)
40	ILLUMINA	ss2633776948	Nov 08, 2017 (151)
41	ILLUMINA	ss2710935239	Nov 08, 2017 (151)
42	GNOMAD	ss2965409140	Nov 08, 2017 (151)
43	SWEGEN	ss3017864474	Nov 08, 2017 (151)
44	ILLUMINA	ss3022100758	Nov 08, 2017 (151)
45	BIOINF_KMB_FNS_UNIBA	ss3028734305	Nov 08, 2017 (151)
46	CSHL	ss3352418239	Nov 08, 2017 (151)
47	ILLUMINA	ss3625784342	Oct 12, 2018 (152)
48	ILLUMINA	ss3628350652	Oct 12, 2018 (152)
49	ILLUMINA	ss3631734717	Oct 12, 2018 (152)
50	ILLUMINA	ss3633244328	Oct 12, 2018 (152)
51	ILLUMINA	ss3633958124	Oct 12, 2018 (152)
52	ILLUMINA	ss3634826539	Oct 12, 2018 (152)
53	ILLUMINA	ss3635643342	Oct 12, 2018 (152)
54	ILLUMINA	ss3636516933	Oct 12, 2018 (152)
55	ILLUMINA	ss3637395414	Oct 12, 2018 (152)
56	ILLUMINA	ss3640533837	Oct 12, 2018 (152)
57	ILLUMINA	ss3641125136	Oct 12, 2018 (152)
58	ILLUMINA	ss3641421315	Oct 12, 2018 (152)
59	ILLUMINA	ss3644777438	Oct 12, 2018 (152)
60	ILLUMINA	ss3652555162	Oct 12, 2018 (152)
61	EGCUT_WGS	ss3684581414	Jul 13, 2019 (153)
62	EVA_DECODE	ss3706555322	Jul 13, 2019 (153)
63	ILLUMINA	ss3725899942	Jul 13, 2019 (153)
64	ACPOP	ss3743247031	Jul 13, 2019 (153)
65	ILLUMINA	ss3744194947	Jul 13, 2019 (153)
66	ILLUMINA	ss3745126439	Jul 13, 2019 (153)
67	EVA	ss3758418873	Jul 13, 2019 (153)
68	PAGE_CC	ss3772036468	Jul 13, 2019 (153)
69	ILLUMINA	ss3772622705	Jul 13, 2019 (153)
70	KHV_HUMAN_GENOMES	ss3821592749	Jul 13, 2019 (153)
71	EVA	ss3835586834	Apr 27, 2020 (154)
72	SGDP_PRJ	ss3888727897	Apr 27, 2020 (154)
73	KRGDB	ss3938916610	Apr 27, 2020 (154)
74	KOGIC	ss3981818946	Apr 27, 2020 (154)
75	EVA	ss3984746952	Apr 26, 2021 (155)
76	EVA	ss3985867390	Apr 26, 2021 (155)
77	TOPMED	ss5082188991	Apr 26, 2021 (155)
78	TOMMO_GENOMICS	ss5228831265	Apr 26, 2021 (155)
79	EVA	ss5237602061	Apr 26, 2021 (155)
80	1000G_HIGH_COVERAGE	ss5308078556	Oct 13, 2022 (156)
81	EVA	ss5315994537	Oct 13, 2022 (156)
82	EVA	ss5436247616	Oct 13, 2022 (156)
83	HUGCELL_USP	ss5500479505	Oct 13, 2022 (156)
84	EVA	ss5512154219	Oct 13, 2022 (156)
85	1000G_HIGH_COVERAGE	ss5614156028	Oct 13, 2022 (156)
86	SANFORD_IMAGENETICS	ss5624480595	Oct 13, 2022 (156)
87	SANFORD_IMAGENETICS	ss5662861016	Oct 13, 2022 (156)
88	TOMMO_GENOMICS	ss5787816868	Oct 13, 2022 (156)
89	EVA	ss5800016202	Oct 13, 2022 (156)
90	YY_MCH	ss5817814317	Oct 13, 2022 (156)
91	EVA	ss5845441386	Oct 13, 2022 (156)
92	EVA	ss5847502385	Oct 13, 2022 (156)
93	EVA	ss5853067947	Oct 13, 2022 (156)
94	EVA	ss5922666106	Oct 13, 2022 (156)
95	EVA	ss5957762196	Oct 13, 2022 (156)
96	EVA	ss5979610203	Oct 13, 2022 (156)
97	1000Genomes	NC_000020.10 - 10038640	Oct 12, 2018 (152)
98	1000Genomes_30x	NC_000020.11 - 10057992	Oct 13, 2022 (156)
99	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 10038640	Oct 12, 2018 (152)
100	Genetic variation in the Estonian population	NC_000020.10 - 10038640	Oct 12, 2018 (152)
101	The Danish reference pan genome	NC_000020.10 - 10038640	Apr 27, 2020 (154)
102	gnomAD - Genomes Submission ignored due to conflicting rows: Row 546422299 (NC_000020.11:10057991:A:C 36493/140066) Row 546422300 (NC_000020.11:10057991:A:G 3/140112)	-	Apr 26, 2021 (155)
103	gnomAD - Genomes Submission ignored due to conflicting rows: Row 546422299 (NC_000020.11:10057991:A:C 36493/140066) Row 546422300 (NC_000020.11:10057991:A:G 3/140112)	-	Apr 26, 2021 (155)
104	Genome of the Netherlands Release 5	NC_000020.10 - 10038640	Apr 27, 2020 (154)
105	HapMap	NC_000020.11 - 10057992	Apr 27, 2020 (154)
106	KOREAN population from KRGDB	NC_000020.10 - 10038640	Apr 27, 2020 (154)
107	Korean Genome Project	NC_000020.11 - 10057992	Apr 27, 2020 (154)
108	Northern Sweden	NC_000020.10 - 10038640	Jul 13, 2019 (153)
109	The PAGE Study	NC_000020.11 - 10057992	Jul 13, 2019 (153)
110	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 10038640	Apr 26, 2021 (155)
111	CNV burdens in cranial meningiomas	NC_000020.10 - 10038640	Apr 26, 2021 (155)
112	Qatari	NC_000020.10 - 10038640	Apr 27, 2020 (154)
113	SGDP_PRJ	NC_000020.10 - 10038640	Apr 27, 2020 (154)
114	Siberian	NC_000020.10 - 10038640	Apr 27, 2020 (154)
115	8.3KJPN	NC_000020.10 - 10038640	Apr 26, 2021 (155)
116	14KJPN	NC_000020.11 - 10057992	Oct 13, 2022 (156)
117	TopMed	NC_000020.11 - 10057992	Apr 26, 2021 (155)
118	UK 10K study - Twins	NC_000020.10 - 10038640	Oct 12, 2018 (152)
119	A Vietnamese Genetic Variation Database	NC_000020.10 - 10038640	Jul 13, 2019 (153)
120	ALFA	NC_000020.11 - 10057992	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss91637102, ss113080120, ss169074671, ss255479541, ss287422235, ss481013460, ss1698592481	NC_000020.9:9986639:A:C	NC_000020.11:10057991:A:C	(self)
77495401, 42899670, 30319662, 5601039, 19114666, 46094004, 16531896, 1093317, 296519, 20088844, 40744877, 10872795, 86800572, 42899670, 9470861, ss228255315, ss237761706, ss481034409, ss482018971, ss485301710, ss537262058, ss566134270, ss662005332, ss778543462, ss783096713, ss784054020, ss832355246, ss834000112, ss994536509, ss1082071346, ss1364056218, ss1428995093, ss1579436100, ss1638407551, ss1681401584, ss1752375226, ss1809421636, ss1938046922, ss1946547087, ss1959898595, ss2029802662, ss2158356441, ss2633776948, ss2710935239, ss2965409140, ss3017864474, ss3022100758, ss3352418239, ss3625784342, ss3628350652, ss3631734717, ss3633244328, ss3633958124, ss3634826539, ss3635643342, ss3636516933, ss3637395414, ss3640533837, ss3641125136, ss3641421315, ss3644777438, ss3652555162, ss3684581414, ss3743247031, ss3744194947, ss3745126439, ss3758418873, ss3772622705, ss3835586834, ss3888727897, ss3938916610, ss3984746952, ss3985867390, ss5228831265, ss5237602061, ss5315994537, ss5436247616, ss5512154219, ss5624480595, ss5662861016, ss5800016202, ss5845441386, ss5847502385, ss5957762196, ss5979610203	NC_000020.10:10038639:A:C	NC_000020.11:10057991:A:C	(self)
101681963, 2069950, 38196947, 1257937, 121653972, 357297936, 4830847025, ss2241308795, ss3028734305, ss3706555322, ss3725899942, ss3772036468, ss3821592749, ss3981818946, ss5082188991, ss5308078556, ss5500479505, ss5614156028, ss5787816868, ss5817814317, ss5853067947, ss5922666106	NC_000020.11:10057991:A:C	NC_000020.11:10057991:A:C	(self)
ss640427, ss3393110, ss138209642, ss160701158	NT_011387.8:9978639:A:C	NC_000020.11:10057991:A:C	(self)
ss2965409140	NC_000020.10:10038639:A:G	NC_000020.11:10057991:A:G	(self)
4830847025	NC_000020.11:10057991:A:G	NC_000020.11:10057991: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 rs471085

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

rs471085