Name: rs5809644
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.

rs5809644

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:74073990-74074003 (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: delTTT / delTT / delT / dupT
Variation Type: Indel Insertion and Deletion
Frequency: delTT=0.0884 (810/9167, ALFA)
delTT=0.3477 (1504/4325, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BBOF1 : Intron Variant
ALDH6A1 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	9167	TTTTTTTTTTTTTT=0.8367	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0884, TTTTTTTTTTTTT=0.0748, TTTTTTTTTTTTTTT=0.0001	0.847941	0.021217	0.130841	32
European	Sub	7827	TTTTTTTTTTTTTT=0.8089	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.1035, TTTTTTTTTTTTT=0.0875, TTTTTTTTTTTTTTT=0.0001	0.817021	0.025532	0.157447	32
African	Sub	856	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	34	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	822	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	54	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	40	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	52	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	182	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	20	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	176	TTTTTTTTTTTTTT=0.994	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.006, TTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	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
Allele Frequency Aggregator	Total	Global	9167	(T)₁₄=0.8367	delTTT=0.0000, delTT=0.0884, delT=0.0748, dupT=0.0001
Allele Frequency Aggregator	European	Sub	7827	(T)₁₄=0.8089	delTTT=0.0000, delTT=0.1035, delT=0.0875, dupT=0.0001
Allele Frequency Aggregator	African	Sub	856	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	182	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Other	Sub	176	(T)₁₄=0.994	delTTT=0.000, delTT=0.000, delT=0.006, dupT=0.000
Allele Frequency Aggregator	Asian	Sub	54	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	52	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
1000Genomes	Global	Study-wide	4325	(T)₁₄=0.6523	delTT=0.3477
1000Genomes	African	Sub	1173	(T)₁₄=0.6027	delTT=0.3973
1000Genomes	East Asian	Sub	905	(T)₁₄=0.734	delTT=0.266
1000Genomes	South Asian	Sub	880	(T)₁₄=0.455	delTT=0.545
1000Genomes	Europe	Sub	854	(T)₁₄=0.776	delTT=0.224
1000Genomes	American	Sub	513	(T)₁₄=0.754	delTT=0.246

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 14	NC_000014.9:g.74074001_74074003del
GRCh38.p14 chr 14	NC_000014.9:g.74074002_74074003del
GRCh38.p14 chr 14	NC_000014.9:g.74074003del
GRCh38.p14 chr 14	NC_000014.9:g.74074003dup
GRCh37.p13 chr 14	NC_000014.8:g.74540704_74540706del
GRCh37.p13 chr 14	NC_000014.8:g.74540705_74540706del
GRCh37.p13 chr 14	NC_000014.8:g.74540706del
GRCh37.p13 chr 14	NC_000014.8:g.74540706dup
ALDH6A1 RefSeqGene	NG_012257.2:g.15502_15504del
ALDH6A1 RefSeqGene	NG_012257.2:g.15503_15504del
ALDH6A1 RefSeqGene	NG_012257.2:g.15504del
ALDH6A1 RefSeqGene	NG_012257.2:g.15504dup

Gene: ALDH6A1, aldehyde dehydrogenase 6 family member A1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ALDH6A1 transcript variant 2	NM_001278593.2:c.111+963_… NM_001278593.2:c.111+963_111+965del	N/A	Intron Variant
ALDH6A1 transcript variant 3	NM_001278594.2:c.-515+963… NM_001278594.2:c.-515+963_-515+965del	N/A	Intron Variant
ALDH6A1 transcript variant 1	NM_005589.4:c.111+963_111… NM_005589.4:c.111+963_111+965del	N/A	Intron Variant

Gene: BBOF1, basal body orientation factor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BBOF1 transcript	NM_025057.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X4	XM_005268092.4:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X1	XM_011537170.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X2	XM_011537171.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X5	XM_011537174.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X7	XM_011537175.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X9	XM_011537176.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X11	XM_011537177.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X12	XM_011537178.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X15	XM_011537179.3:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X14	XM_017021660.2:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X16	XM_017021661.2:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X20	XM_017021662.2:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X21	XM_017021663.2:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X6	XM_047431778.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X10	XM_047431779.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X13	XM_047431780.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X17	XM_047431781.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X18	XM_047431782.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X19	XM_047431783.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X22	XM_047431784.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X23	XM_047431785.1:c.	N/A	Genic Downstream Transcript Variant
BBOF1 transcript variant X3	XR_007064048.1:n.	N/A	Intron Variant
BBOF1 transcript variant X8	XR_007064049.1: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	(T)₁₄=	delTTT	delTT	delT	dupT
GRCh38.p14 chr 14	NC_000014.9:g.74073990_74074003=	NC_000014.9:g.74074001_74074003del	NC_000014.9:g.74074002_74074003del	NC_000014.9:g.74074003del	NC_000014.9:g.74074003dup
GRCh37.p13 chr 14	NC_000014.8:g.74540693_74540706=	NC_000014.8:g.74540704_74540706del	NC_000014.8:g.74540705_74540706del	NC_000014.8:g.74540706del	NC_000014.8:g.74540706dup
ALDH6A1 RefSeqGene	NG_012257.2:g.15491_15504=	NG_012257.2:g.15502_15504del	NG_012257.2:g.15503_15504del	NG_012257.2:g.15504del	NG_012257.2:g.15504dup
ALDH6A1 transcript variant 2	NM_001278593.1:c.111+965=	NM_001278593.1:c.111+963_111+965del	NM_001278593.1:c.111+964_111+965del	NM_001278593.1:c.111+965del	NM_001278593.1:c.111+965dup
ALDH6A1 transcript variant 2	NM_001278593.2:c.111+965=	NM_001278593.2:c.111+963_111+965del	NM_001278593.2:c.111+964_111+965del	NM_001278593.2:c.111+965del	NM_001278593.2:c.111+965dup
ALDH6A1 transcript variant 3	NM_001278594.1:c.-515+965=	NM_001278594.1:c.-515+963_-515+965del	NM_001278594.1:c.-515+964_-515+965del	NM_001278594.1:c.-515+965del	NM_001278594.1:c.-515+965dup
ALDH6A1 transcript variant 3	NM_001278594.2:c.-515+965=	NM_001278594.2:c.-515+963_-515+965del	NM_001278594.2:c.-515+964_-515+965del	NM_001278594.2:c.-515+965del	NM_001278594.2:c.-515+965dup
ALDH6A1 transcript variant 1	NM_005589.3:c.111+965=	NM_005589.3:c.111+963_111+965del	NM_005589.3:c.111+964_111+965del	NM_005589.3:c.111+965del	NM_005589.3:c.111+965dup
ALDH6A1 transcript variant 1	NM_005589.4:c.111+965=	NM_005589.4:c.111+963_111+965del	NM_005589.4:c.111+964_111+965del	NM_005589.4:c.111+965del	NM_005589.4:c.111+965dup

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#.

50 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40412415	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss95645507	Feb 13, 2009 (137)
3	BUSHMAN	ss193360022	Mar 15, 2016 (147)
4	GMI	ss289230260	May 04, 2012 (137)
5	PJP	ss294838770	May 09, 2011 (137)
6	SSMP	ss664242540	Apr 01, 2015 (144)
7	BILGI_BIOE	ss666632190	Apr 25, 2013 (138)
8	1000GENOMES	ss1374287277	Aug 21, 2014 (142)
9	1000GENOMES	ss1374287280	Aug 21, 2014 (142)
10	DDI	ss1536790096	Apr 01, 2015 (144)
11	HAMMER_LAB	ss1807987023	Sep 08, 2015 (146)
12	SYSTEMSBIOZJU	ss2628550323	Nov 08, 2017 (151)
13	URBANLAB	ss3650237702	Oct 12, 2018 (152)
14	EVA_DECODE	ss3696988694	Jul 13, 2019 (153)
15	EVA_DECODE	ss3696988695	Jul 13, 2019 (153)
16	EVA_DECODE	ss3696988696	Jul 13, 2019 (153)
17	EVA_DECODE	ss3696988697	Jul 13, 2019 (153)
18	ACPOP	ss3740520748	Jul 13, 2019 (153)
19	ACPOP	ss3740520749	Jul 13, 2019 (153)
20	PACBIO	ss3787709066	Jul 13, 2019 (153)
21	PACBIO	ss3792740232	Jul 13, 2019 (153)
22	PACBIO	ss3797624605	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3817842316	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3817842317	Jul 13, 2019 (153)
25	EVA	ss3834000322	Apr 27, 2020 (154)
26	EVA	ss3840591022	Apr 27, 2020 (154)
27	EVA	ss3846080603	Apr 27, 2020 (154)
28	KOGIC	ss3975242725	Apr 27, 2020 (154)
29	KOGIC	ss3975242726	Apr 27, 2020 (154)
30	KOGIC	ss3975242727	Apr 27, 2020 (154)
31	GNOMAD	ss4280746249	Apr 27, 2021 (155)
32	GNOMAD	ss4280746251	Apr 27, 2021 (155)
33	GNOMAD	ss4280746252	Apr 27, 2021 (155)
34	GNOMAD	ss4280746253	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5213939051	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5213939052	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5213939053	Apr 27, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5296770212	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5296770213	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5296770214	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5296770216	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5490760881	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5490760882	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5490760883	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5766948391	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5766948392	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5766948393	Oct 16, 2022 (156)
48	EVA	ss5841326136	Oct 16, 2022 (156)
49	EVA	ss5851100665	Oct 16, 2022 (156)
50	EVA	ss5901968625	Oct 16, 2022 (156)
51	1000Genomes	NC_000014.8 - 74540693	Oct 12, 2018 (152)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455696985 (NC_000014.9:74073989::T 132/132900) Row 455696987 (NC_000014.9:74073989:T: 17831/132680) Row 455696988 (NC_000014.9:74073989:TT: 31363/132738)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455696985 (NC_000014.9:74073989::T 132/132900) Row 455696987 (NC_000014.9:74073989:T: 17831/132680) Row 455696988 (NC_000014.9:74073989:TT: 31363/132738)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455696985 (NC_000014.9:74073989::T 132/132900) Row 455696987 (NC_000014.9:74073989:T: 17831/132680) Row 455696988 (NC_000014.9:74073989:TT: 31363/132738)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 455696985 (NC_000014.9:74073989::T 132/132900) Row 455696987 (NC_000014.9:74073989:T: 17831/132680) Row 455696988 (NC_000014.9:74073989:TT: 31363/132738)...	-	Apr 27, 2021 (155)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 31620726 (NC_000014.9:74073989:TT: 526/1832) Row 31620727 (NC_000014.9:74073990:T: 145/1832) Row 31620728 (NC_000014.9:74073991::T 26/1832)	-	Apr 27, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 31620726 (NC_000014.9:74073989:TT: 526/1832) Row 31620727 (NC_000014.9:74073990:T: 145/1832) Row 31620728 (NC_000014.9:74073991::T 26/1832)	-	Apr 27, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 31620726 (NC_000014.9:74073989:TT: 526/1832) Row 31620727 (NC_000014.9:74073990:T: 145/1832) Row 31620728 (NC_000014.9:74073991::T 26/1832)	-	Apr 27, 2020 (154)
59	Northern Sweden Submission ignored due to conflicting rows: Row 13805613 (NC_000014.8:74540692:TT: 103/600) Row 13805614 (NC_000014.8:74540692:T: 116/600)	-	Jul 13, 2019 (153)
60	Northern Sweden Submission ignored due to conflicting rows: Row 13805613 (NC_000014.8:74540692:TT: 103/600) Row 13805614 (NC_000014.8:74540692:T: 116/600)	-	Jul 13, 2019 (153)
61	8.3KJPN Submission ignored due to conflicting rows: Row 71908358 (NC_000014.8:74540692:TT: 5390/16760) Row 71908359 (NC_000014.8:74540692:T: 1027/16760) Row 71908360 (NC_000014.8:74540692::T 66/16760)	-	Apr 27, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 71908358 (NC_000014.8:74540692:TT: 5390/16760) Row 71908359 (NC_000014.8:74540692:T: 1027/16760) Row 71908360 (NC_000014.8:74540692::T 66/16760)	-	Apr 27, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 71908358 (NC_000014.8:74540692:TT: 5390/16760) Row 71908359 (NC_000014.8:74540692:T: 1027/16760) Row 71908360 (NC_000014.8:74540692::T 66/16760)	-	Apr 27, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 100785495 (NC_000014.9:74073989:TT: 9072/28258) Row 100785496 (NC_000014.9:74073989:T: 1733/28258) Row 100785497 (NC_000014.9:74073989::T 88/28258)	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 100785495 (NC_000014.9:74073989:TT: 9072/28258) Row 100785496 (NC_000014.9:74073989:T: 1733/28258) Row 100785497 (NC_000014.9:74073989::T 88/28258)	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 100785495 (NC_000014.9:74073989:TT: 9072/28258) Row 100785496 (NC_000014.9:74073989:T: 1733/28258) Row 100785497 (NC_000014.9:74073989::T 88/28258)	-	Oct 16, 2022 (156)
67	ALFA	NC_000014.9 - 74073990	Apr 27, 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)
rs34956688	May 23, 2006 (127)
rs71115950	Jul 30, 2012 (137)
rs112911713	May 11, 2012 (137)
rs372349180	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3696988694, ss4280746253, ss5296770216	NC_000014.9:74073989:TTT:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
12877183717	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss289230260	NC_000014.7:73610445:TT:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
64630723, ss664242540, ss1374287277, ss1536790096, ss1807987023, ss2628550323, ss3740520748, ss3834000322, ss5213939051, ss5841326136	NC_000014.8:74540692:TT:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3817842316, ss3975242725, ss4280746252, ss5296770212, ss5490760883, ss5766948391, ss5851100665, ss5901968625	NC_000014.9:74073989:TT:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
12877183717	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3696988695	NC_000014.9:74073990:TT:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss40412415, ss193360022	NT_026437.12:55540692:TT:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss294838770	NC_000014.7:73610458:T:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss666632190, ss3740520749, ss3787709066, ss3792740232, ss3797624605, ss5213939052	NC_000014.8:74540692:T:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1374287280, ss3840591022	NC_000014.8:74540693:T:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3650237702, ss4280746251, ss5296770213, ss5490760881, ss5766948392	NC_000014.9:74073989:T:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
12877183717	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3817842317, ss3846080603, ss3975242726	NC_000014.9:74073990:T:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3696988696	NC_000014.9:74073991:T:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss40412415	NT_026437.12:55540692:TT:T	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss95645507	NT_026437.12:55540705:T:	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5213939053	NC_000014.8:74540692::T	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4280746249, ss5296770214, ss5490760882, ss5766948393	NC_000014.9:74073989::T	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
12877183717	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3975242727	NC_000014.9:74073991::T	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3696988697	NC_000014.9:74073992::T	NC_000014.9:74073989:TTTTTTTTTTTTT… NC_000014.9:74073989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(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 rs5809644

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

rs5809644