Name: rs3834316
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.

rs3834316

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:5998102-5998111 (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: del(T)₅ / delTT / delT / dupT / du…
del(T)₅ / delTT / delT / dupT / dupTT / dup(T)₆ / ins(T)₁₁
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.422963 (111954/264690, TOPMED)
delT=0.3860 (1890/4897, 1000G)
(T)₁₀=0.4585 (1879/4098, Estonian) (+ 5 more)
del(T)₅=0.0000 (0/3214, ALFA)
delTT=0.0000 (0/3214, ALFA)
delT=0.0000 (0/3214, ALFA)
dupT=0.0000 (0/3214, ALFA)
dupTT=0.0000 (0/3214, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NRN1 : 3 Prime UTR Variant
LOC105374898 : 500B Downstream 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	3214	TTTTTTTTTT=1.0000	TTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	1642	TTTTTTTTTT=1.0000	TTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	1022	TTTTTTTTTT=1.0000	TTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	48	TTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	974	TTTTTTTTTT=1.000	TTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000	1.0	N/A
Asian	Sub	56	TTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	40	TTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	16	TTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	42	TTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	264	TTTTTTTTTT=1.000	TTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	26	TTTTTTTTTT=1.00	TTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	162	TTTTTTTTTT=1.000	TTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000	1.0	N/A

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	(T)₁₀=0.577037	delT=0.422963
1000Genomes	Global	Study-wide	4897	(T)₁₀=0.6140	delT=0.3860
1000Genomes	African	Sub	1307	(T)₁₀=0.6151	delT=0.3849
1000Genomes	East Asian	Sub	1004	(T)₁₀=0.7131	delT=0.2869
1000Genomes	Europe	Sub	963	(T)₁₀=0.497	delT=0.503
1000Genomes	South Asian	Sub	948	(T)₁₀=0.604	delT=0.396
1000Genomes	American	Sub	675	(T)₁₀=0.644	delT=0.356
Genetic variation in the Estonian population	Estonian	Study-wide	4098	(T)₁₀=0.4585	delT=0.5415
Allele Frequency Aggregator	Total	Global	3214	(T)₁₀=1.0000	del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	European	Sub	1642	(T)₁₀=1.0000	del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	1022	(T)₁₀=1.0000	del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	264	(T)₁₀=1.000	del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	162	(T)₁₀=1.000	del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	56	(T)₁₀=1.00	del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	42	(T)₁₀=1.00	del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	26	(T)₁₀=1.00	del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00

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 6	NC_000006.12:g.5998107_5998111del
GRCh38.p14 chr 6	NC_000006.12:g.5998110_5998111del
GRCh38.p14 chr 6	NC_000006.12:g.5998111del
GRCh38.p14 chr 6	NC_000006.12:g.5998111dup
GRCh38.p14 chr 6	NC_000006.12:g.5998110_5998111dup
GRCh38.p14 chr 6	NC_000006.12:g.5998106_5998111dup
GRCh38.p14 chr 6	NC_000006.12:g.5998111_5998112insTTTTTTTTTTT
GRCh37.p13 chr 6	NC_000006.11:g.5998340_5998344del
GRCh37.p13 chr 6	NC_000006.11:g.5998343_5998344del
GRCh37.p13 chr 6	NC_000006.11:g.5998344del
GRCh37.p13 chr 6	NC_000006.11:g.5998344dup
GRCh37.p13 chr 6	NC_000006.11:g.5998343_5998344dup
GRCh37.p13 chr 6	NC_000006.11:g.5998339_5998344dup
GRCh37.p13 chr 6	NC_000006.11:g.5998344_5998345insTTTTTTTTTTT

Gene: NRN1, neuritin 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NRN1 transcript variant 1	NM_016588.3:c.865_874=	N/A	3 Prime UTR Variant
NRN1 transcript variant 2	NM_001278710.2:c.865_87… NM_001278710.2:c.865_874=	N/A	3 Prime UTR Variant
NRN1 transcript variant 3	NM_001278711.2:c.865_87… NM_001278711.2:c.865_874=	N/A	3 Prime UTR Variant
NRN1 transcript variant X1	XM_006715106.4:c.865_87… XM_006715106.4:c.865_874=	N/A	3 Prime UTR Variant
NRN1 transcript variant X2	XM_006715107.4:c.865_87… XM_006715107.4:c.865_874=	N/A	3 Prime UTR Variant

Gene: LOC105374898, uncharacterized LOC105374898 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105374898 transcript	XR_926413.4:n.	N/A	Downstream Transcript 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)₁₀=	del(T)₅	delTT	delT	dupT	dupTT	dup(T)₆	ins(T)₁₁
GRCh38.p14 chr 6	NC_000006.12:g.5998102_5998111=	NC_000006.12:g.5998107_5998111del	NC_000006.12:g.5998110_5998111del	NC_000006.12:g.5998111del	NC_000006.12:g.5998111dup	NC_000006.12:g.5998110_5998111dup	NC_000006.12:g.5998106_5998111dup	NC_000006.12:g.5998111_5998112insTTTTTTTTTTT
GRCh37.p13 chr 6	NC_000006.11:g.5998335_5998344=	NC_000006.11:g.5998340_5998344del	NC_000006.11:g.5998343_5998344del	NC_000006.11:g.5998344del	NC_000006.11:g.5998344dup	NC_000006.11:g.5998343_5998344dup	NC_000006.11:g.5998339_5998344dup	NC_000006.11:g.5998344_5998345insTTTTTTTTTTT
NRN1 transcript variant X1	XM_006715106.4:c.865_874=	XM_006715106.4:c.870_874del	XM_006715106.4:c.873_874del	XM_006715106.4:c.*874del	XM_006715106.4:c.*874dup	XM_006715106.4:c.873_874dup	XM_006715106.4:c.869_874dup	XM_006715106.4:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X1	XM_006715106.3:c.865_874=	XM_006715106.3:c.870_874del	XM_006715106.3:c.873_874del	XM_006715106.3:c.*874del	XM_006715106.3:c.*874dup	XM_006715106.3:c.873_874dup	XM_006715106.3:c.869_874dup	XM_006715106.3:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X1	XM_006715106.2:c.865_874=	XM_006715106.2:c.870_874del	XM_006715106.2:c.873_874del	XM_006715106.2:c.*874del	XM_006715106.2:c.*874dup	XM_006715106.2:c.873_874dup	XM_006715106.2:c.869_874dup	XM_006715106.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X1	XM_006715106.1:c.865_874=	XM_006715106.1:c.870_874del	XM_006715106.1:c.873_874del	XM_006715106.1:c.*874del	XM_006715106.1:c.*874dup	XM_006715106.1:c.873_874dup	XM_006715106.1:c.869_874dup	XM_006715106.1:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.4:c.865_874=	XM_006715107.4:c.870_874del	XM_006715107.4:c.873_874del	XM_006715107.4:c.*874del	XM_006715107.4:c.*874dup	XM_006715107.4:c.873_874dup	XM_006715107.4:c.869_874dup	XM_006715107.4:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.3:c.865_874=	XM_006715107.3:c.870_874del	XM_006715107.3:c.873_874del	XM_006715107.3:c.*874del	XM_006715107.3:c.*874dup	XM_006715107.3:c.873_874dup	XM_006715107.3:c.869_874dup	XM_006715107.3:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.2:c.865_874=	XM_006715107.2:c.870_874del	XM_006715107.2:c.873_874del	XM_006715107.2:c.*874del	XM_006715107.2:c.*874dup	XM_006715107.2:c.873_874dup	XM_006715107.2:c.869_874dup	XM_006715107.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.1:c.865_874=	XM_006715107.1:c.870_874del	XM_006715107.1:c.873_874del	XM_006715107.1:c.*874del	XM_006715107.1:c.*874dup	XM_006715107.1:c.873_874dup	XM_006715107.1:c.869_874dup	XM_006715107.1:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 1	NM_016588.3:c.865_874=	NM_016588.3:c.870_874del	NM_016588.3:c.873_874del	NM_016588.3:c.*874del	NM_016588.3:c.*874dup	NM_016588.3:c.873_874dup	NM_016588.3:c.869_874dup	NM_016588.3:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 1	NM_016588.2:c.865_874=	NM_016588.2:c.870_874del	NM_016588.2:c.873_874del	NM_016588.2:c.*874del	NM_016588.2:c.*874dup	NM_016588.2:c.873_874dup	NM_016588.2:c.869_874dup	NM_016588.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 3	NM_001278711.2:c.865_874=	NM_001278711.2:c.870_874del	NM_001278711.2:c.873_874del	NM_001278711.2:c.*874del	NM_001278711.2:c.*874dup	NM_001278711.2:c.873_874dup	NM_001278711.2:c.869_874dup	NM_001278711.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 3	NM_001278711.1:c.865_874=	NM_001278711.1:c.870_874del	NM_001278711.1:c.873_874del	NM_001278711.1:c.*874del	NM_001278711.1:c.*874dup	NM_001278711.1:c.873_874dup	NM_001278711.1:c.869_874dup	NM_001278711.1:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 2	NM_001278710.2:c.865_874=	NM_001278710.2:c.870_874del	NM_001278710.2:c.873_874del	NM_001278710.2:c.*874del	NM_001278710.2:c.*874dup	NM_001278710.2:c.873_874dup	NM_001278710.2:c.869_874dup	NM_001278710.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 2	NM_001278710.1:c.865_874=	NM_001278710.1:c.870_874del	NM_001278710.1:c.873_874del	NM_001278710.1:c.*874del	NM_001278710.1:c.*874dup	NM_001278710.1:c.873_874dup	NM_001278710.1:c.869_874dup	NM_001278710.1:c.874_875insAAAAAAAAAAA

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#.

61 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss5020826	Aug 28, 2002 (107)
2	HUMANGENOME_JCVI	ss95418008	Oct 12, 2018 (152)
3	GMI	ss155027986	Dec 06, 2013 (138)
4	GMI	ss288681075	May 04, 2012 (137)
5	GMI	ss288681076	Oct 12, 2018 (152)
6	1000GENOMES	ss326761278	May 09, 2011 (137)
7	1000GENOMES	ss326807138	May 09, 2011 (137)
8	1000GENOMES	ss327045331	May 09, 2011 (137)
9	LUNTER	ss551579071	Apr 25, 2013 (138)
10	LUNTER	ss551757078	Apr 25, 2013 (138)
11	LUNTER	ss553232185	Apr 25, 2013 (138)
12	SSMP	ss663705533	Apr 01, 2015 (144)
13	BILGI_BIOE	ss666341120	Apr 25, 2013 (138)
14	1000GENOMES	ss1375074668	Aug 21, 2014 (142)
15	1000GENOMES	ss1375074671	Oct 12, 2018 (152)
16	DDI	ss1536492707	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1705021752	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1705021761	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1710250566	Oct 12, 2018 (152)
20	EVA_UK10K_ALSPAC	ss1710250569	Oct 12, 2018 (152)
21	TMC_SNPDB	ss1997186237	Oct 12, 2018 (152)
22	MCHAISSO	ss3064190343	Nov 08, 2017 (151)
23	MCHAISSO	ss3065066651	Nov 08, 2017 (151)
24	MCHAISSO	ss3066062471	Nov 08, 2017 (151)
25	BEROUKHIMLAB	ss3644203166	Oct 12, 2018 (152)
26	BIOINF_KMB_FNS_UNIBA	ss3645929964	Oct 12, 2018 (152)
27	EGCUT_WGS	ss3666373852	Jul 13, 2019 (153)
28	EVA_DECODE	ss3716502513	Jul 13, 2019 (153)
29	EVA_DECODE	ss3716502514	Jul 13, 2019 (153)
30	EVA_DECODE	ss3716502515	Jul 13, 2019 (153)
31	EVA_DECODE	ss3716502516	Jul 13, 2019 (153)
32	EVA_DECODE	ss3716502517	Jul 13, 2019 (153)
33	ACPOP	ss3733166685	Jul 13, 2019 (153)
34	ACPOP	ss3733166686	Jul 13, 2019 (153)
35	PACBIO	ss3785360509	Jul 13, 2019 (153)
36	PACBIO	ss3785360510	Jul 13, 2019 (153)
37	PACBIO	ss3790727762	Jul 13, 2019 (153)
38	PACBIO	ss3795604944	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3807724085	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3807724086	Jul 13, 2019 (153)
41	EVA	ss3829710167	Apr 26, 2020 (154)
42	EVA	ss3838329694	Apr 26, 2020 (154)
43	EVA	ss3843769671	Apr 26, 2020 (154)
44	KOGIC	ss3958423062	Apr 26, 2020 (154)
45	KOGIC	ss3958423063	Apr 26, 2020 (154)
46	GNOMAD	ss4136244060	Apr 26, 2021 (155)
47	GNOMAD	ss4136244061	Apr 26, 2021 (155)
48	GNOMAD	ss4136244062	Apr 26, 2021 (155)
49	GNOMAD	ss4136244063	Apr 26, 2021 (155)
50	GNOMAD	ss4136244064	Apr 26, 2021 (155)
51	TOPMED	ss4692339035	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5175979119	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5175979120	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5267259378	Oct 17, 2022 (156)
55	HUGCELL_USP	ss5465065279	Oct 17, 2022 (156)
56	HUGCELL_USP	ss5465065280	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5713594531	Oct 17, 2022 (156)
58	TOMMO_GENOMICS	ss5713594532	Oct 17, 2022 (156)
59	EVA	ss5841737043	Oct 17, 2022 (156)
60	EVA	ss5841737044	Oct 17, 2022 (156)
61	EVA	ss5882492904	Oct 17, 2022 (156)
62	1000Genomes	NC_000006.11 - 5998335	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17006603 (NC_000006.11:5998334:T: 1927/3854) Row 17006604 (NC_000006.11:5998334::T 187/3854)	-	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17006603 (NC_000006.11:5998334:T: 1927/3854) Row 17006604 (NC_000006.11:5998334::T 187/3854)	-	Oct 12, 2018 (152)
65	Genetic variation in the Estonian population	NC_000006.11 - 5998335	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215968555 (NC_000006.12:5998101::T 4901/138514) Row 215968556 (NC_000006.12:5998101::TT 82/138534) Row 215968557 (NC_000006.12:5998101:T: 60429/138438)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215968555 (NC_000006.12:5998101::T 4901/138514) Row 215968556 (NC_000006.12:5998101::TT 82/138534) Row 215968557 (NC_000006.12:5998101:T: 60429/138438)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215968555 (NC_000006.12:5998101::T 4901/138514) Row 215968556 (NC_000006.12:5998101::TT 82/138534) Row 215968557 (NC_000006.12:5998101:T: 60429/138438)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215968555 (NC_000006.12:5998101::T 4901/138514) Row 215968556 (NC_000006.12:5998101::TT 82/138534) Row 215968557 (NC_000006.12:5998101:T: 60429/138438)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215968555 (NC_000006.12:5998101::T 4901/138514) Row 215968556 (NC_000006.12:5998101::TT 82/138534) Row 215968557 (NC_000006.12:5998101:T: 60429/138438)...	-	Apr 26, 2021 (155)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 14801063 (NC_000006.12:5998102:T: 536/1832) Row 14801064 (NC_000006.12:5998103::T 11/1832)	-	Apr 26, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 14801063 (NC_000006.12:5998102:T: 536/1832) Row 14801064 (NC_000006.12:5998103::T 11/1832)	-	Apr 26, 2020 (154)
73	Northern Sweden Submission ignored due to conflicting rows: Row 6451550 (NC_000006.11:5998334:T: 312/600) Row 6451551 (NC_000006.11:5998334::T 31/600)	-	Jul 13, 2019 (153)
74	Northern Sweden Submission ignored due to conflicting rows: Row 6451550 (NC_000006.11:5998334:T: 312/600) Row 6451551 (NC_000006.11:5998334::T 31/600)	-	Jul 13, 2019 (153)
75	8.3KJPN Submission ignored due to conflicting rows: Row 33948426 (NC_000006.11:5998334:T: 6327/16760) Row 33948427 (NC_000006.11:5998334::T 60/16760)	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 33948426 (NC_000006.11:5998334:T: 6327/16760) Row 33948427 (NC_000006.11:5998334::T 60/16760)	-	Apr 26, 2021 (155)
77	14KJPN Submission ignored due to conflicting rows: Row 47431635 (NC_000006.12:5998101:T: 10741/28258) Row 47431636 (NC_000006.12:5998101::T 102/28258)	-	Oct 17, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 47431635 (NC_000006.12:5998101:T: 10741/28258) Row 47431636 (NC_000006.12:5998101::T 102/28258)	-	Oct 17, 2022 (156)
79	TopMed	NC_000006.12 - 5998102	Apr 26, 2021 (155)
80	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17006603 (NC_000006.11:5998334:T: 1824/3708) Row 17006604 (NC_000006.11:5998334::T 149/3708)	-	Oct 12, 2018 (152)
81	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17006603 (NC_000006.11:5998334:T: 1824/3708) Row 17006604 (NC_000006.11:5998334::T 149/3708)	-	Oct 12, 2018 (152)
82	ALFA	NC_000006.12 - 5998102	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)
rs71661520	May 11, 2012 (137)
rs71792712	May 11, 2012 (137)
rs143781532	May 04, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4136244064	NC_000006.12:5998101:TTTTT:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTT	(self)
9849683660	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTT	(self)
ss3785360509	NC_000006.11:5998334:TT:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTT	(self)
ss3716502513, ss4136244063	NC_000006.12:5998101:TT:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTT	(self)
9849683660	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTT	(self)
ss288681075, ss326761278, ss326807138, ss327045331, ss551579071, ss551757078, ss553232185	NC_000006.10:5943333:T:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	(self)
30549201, 12112100, ss663705533, ss666341120, ss1375074668, ss1536492707, ss1705021752, ss1705021761, ss3644203166, ss3666373852, ss3733166685, ss3785360510, ss3790727762, ss3795604944, ss3829710167, ss3838329694, ss5175979119, ss5841737043	NC_000006.11:5998334:T:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	(self)
529716593, ss3064190343, ss3065066651, ss3066062471, ss3645929964, ss3807724085, ss3843769671, ss4136244062, ss4692339035, ss5267259378, ss5465065279, ss5713594531, ss5882492904	NC_000006.12:5998101:T:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	(self)
9849683660	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	(self)
ss3716502514, ss3958423062	NC_000006.12:5998102:T:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	(self)
ss5020826	NT_007592.15:5938334:T:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	(self)
ss155027986	NT_007592.15:5938343:T:	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTT	(self)
ss288681076	NC_000006.10:5943343::T	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss3733166686, ss5175979120	NC_000006.11:5998334::T	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss1375074671, ss1710250566, ss1710250569, ss1997186237	NC_000006.11:5998335::T	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss4136244060, ss5465065280, ss5713594532	NC_000006.12:5998101::T	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
9849683660	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss3807724086	NC_000006.12:5998102::T	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss3716502515, ss3958423063	NC_000006.12:5998103::T	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss95418008	NT_007592.15:5938344::T	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss5841737044	NC_000006.11:5998334::TT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTT
ss4136244061	NC_000006.12:5998101::TT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTT	(self)
9849683660	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3716502516	NC_000006.12:5998103::TTTTTT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3716502517	NC_000006.12:5998103::TTTTTTTTTTT	NC_000006.12:5998101:TTTTTTTTTT:TT… NC_000006.12:5998101:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(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 rs3834316

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

Placement	(T)₁₀=	del(T)₅	delTT	delT	dupT	dupTT	dup(T)₆	ins(T)₁₁
GRCh38.p14 chr 6	NC_000006.12:g.5998102_5998111=	NC_000006.12:g.5998107_5998111del	NC_000006.12:g.5998110_5998111del	NC_000006.12:g.5998111del	NC_000006.12:g.5998111dup	NC_000006.12:g.5998110_5998111dup	NC_000006.12:g.5998106_5998111dup	NC_000006.12:g.5998111_5998112insTTTTTTTTTTT
GRCh37.p13 chr 6	NC_000006.11:g.5998335_5998344=	NC_000006.11:g.5998340_5998344del	NC_000006.11:g.5998343_5998344del	NC_000006.11:g.5998344del	NC_000006.11:g.5998344dup	NC_000006.11:g.5998343_5998344dup	NC_000006.11:g.5998339_5998344dup	NC_000006.11:g.5998344_5998345insTTTTTTTTTTT
NRN1 transcript variant X1	XM_006715106.4:c.865_874=	XM_006715106.4:c.870_874del	XM_006715106.4:c.873_874del	XM_006715106.4:c.*874del	XM_006715106.4:c.*874dup	XM_006715106.4:c.873_874dup	XM_006715106.4:c.869_874dup	XM_006715106.4:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X1	XM_006715106.3:c.865_874=	XM_006715106.3:c.870_874del	XM_006715106.3:c.873_874del	XM_006715106.3:c.*874del	XM_006715106.3:c.*874dup	XM_006715106.3:c.873_874dup	XM_006715106.3:c.869_874dup	XM_006715106.3:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X1	XM_006715106.2:c.865_874=	XM_006715106.2:c.870_874del	XM_006715106.2:c.873_874del	XM_006715106.2:c.*874del	XM_006715106.2:c.*874dup	XM_006715106.2:c.873_874dup	XM_006715106.2:c.869_874dup	XM_006715106.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X1	XM_006715106.1:c.865_874=	XM_006715106.1:c.870_874del	XM_006715106.1:c.873_874del	XM_006715106.1:c.*874del	XM_006715106.1:c.*874dup	XM_006715106.1:c.873_874dup	XM_006715106.1:c.869_874dup	XM_006715106.1:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.4:c.865_874=	XM_006715107.4:c.870_874del	XM_006715107.4:c.873_874del	XM_006715107.4:c.*874del	XM_006715107.4:c.*874dup	XM_006715107.4:c.873_874dup	XM_006715107.4:c.869_874dup	XM_006715107.4:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.3:c.865_874=	XM_006715107.3:c.870_874del	XM_006715107.3:c.873_874del	XM_006715107.3:c.*874del	XM_006715107.3:c.*874dup	XM_006715107.3:c.873_874dup	XM_006715107.3:c.869_874dup	XM_006715107.3:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.2:c.865_874=	XM_006715107.2:c.870_874del	XM_006715107.2:c.873_874del	XM_006715107.2:c.*874del	XM_006715107.2:c.*874dup	XM_006715107.2:c.873_874dup	XM_006715107.2:c.869_874dup	XM_006715107.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant X2	XM_006715107.1:c.865_874=	XM_006715107.1:c.870_874del	XM_006715107.1:c.873_874del	XM_006715107.1:c.*874del	XM_006715107.1:c.*874dup	XM_006715107.1:c.873_874dup	XM_006715107.1:c.869_874dup	XM_006715107.1:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 1	NM_016588.3:c.865_874=	NM_016588.3:c.870_874del	NM_016588.3:c.873_874del	NM_016588.3:c.*874del	NM_016588.3:c.*874dup	NM_016588.3:c.873_874dup	NM_016588.3:c.869_874dup	NM_016588.3:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 1	NM_016588.2:c.865_874=	NM_016588.2:c.870_874del	NM_016588.2:c.873_874del	NM_016588.2:c.*874del	NM_016588.2:c.*874dup	NM_016588.2:c.873_874dup	NM_016588.2:c.869_874dup	NM_016588.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 3	NM_001278711.2:c.865_874=	NM_001278711.2:c.870_874del	NM_001278711.2:c.873_874del	NM_001278711.2:c.*874del	NM_001278711.2:c.*874dup	NM_001278711.2:c.873_874dup	NM_001278711.2:c.869_874dup	NM_001278711.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 3	NM_001278711.1:c.865_874=	NM_001278711.1:c.870_874del	NM_001278711.1:c.873_874del	NM_001278711.1:c.*874del	NM_001278711.1:c.*874dup	NM_001278711.1:c.873_874dup	NM_001278711.1:c.869_874dup	NM_001278711.1:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 2	NM_001278710.2:c.865_874=	NM_001278710.2:c.870_874del	NM_001278710.2:c.873_874del	NM_001278710.2:c.*874del	NM_001278710.2:c.*874dup	NM_001278710.2:c.873_874dup	NM_001278710.2:c.869_874dup	NM_001278710.2:c.874_875insAAAAAAAAAAA
NRN1 transcript variant 2	NM_001278710.1:c.865_874=	NM_001278710.1:c.870_874del	NM_001278710.1:c.873_874del	NM_001278710.1:c.*874del	NM_001278710.1:c.*874dup	NM_001278710.1:c.873_874dup	NM_001278710.1:c.869_874dup	NM_001278710.1:c.874_875insAAAAAAAAAAA

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3834316