Name: rs11439744
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.

rs11439744

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:751571-751591 (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)₉ / del(T)₅ / del(T)₄ / delT…
del(T)₉ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₇ / ins(T)₂₄C(T)₂₅
Variation Type: Indel Insertion and Deletion
Frequency: (T)₂₁=0.3081 (1543/5008, 1000G)
delTT=0.3165 (1559/4926, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DNAAF5 : 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	4926	TTTTTTTTTTTTTTTTTTTTT=0.5889	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.3165, TTTTTTTTTTTTTTTTTTTT=0.0895, TTTTTTTTTTTTTTTTTTTTTT=0.0051, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.472914	0.139092	0.387994	18
European	Sub	4774	TTTTTTTTTTTTTTTTTTTTT=0.5769	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.3261, TTTTTTTTTTTTTTTTTTTT=0.0920, TTTTTTTTTTTTTTTTTTTTTT=0.0050, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.453671	0.143797	0.402532	13
African	Sub	68	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African American	Sub	68	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	10	TTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	10	TTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	46	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	TTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	22	TTTTTTTTTTTTTTTTTTTTT=0.77	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.09, TTTTTTTTTTTTTTTTTTTT=0.09, TTTTTTTTTTTTTTTTTTTTTT=0.05, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.888889	0.111111	0.0	5

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
1000Genomes	Global	Study-wide	5008	(T)₂₁=0.3081	delTT=0.6919
1000Genomes	African	Sub	1322	(T)₂₁=0.2678	delTT=0.7322
1000Genomes	East Asian	Sub	1008	(T)₂₁=0.5308	delTT=0.4692
1000Genomes	Europe	Sub	1006	(T)₂₁=0.2316	delTT=0.7684
1000Genomes	South Asian	Sub	978	(T)₂₁=0.242	delTT=0.758
1000Genomes	American	Sub	694	(T)₂₁=0.265	delTT=0.735
Allele Frequency Aggregator	Total	Global	4926	(T)₂₁=0.5889	del(T)₉=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.3165, delT=0.0895, dupT=0.0051, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	4774	(T)₂₁=0.5769	del(T)₉=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.3261, delT=0.0920, dupT=0.0050, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	68	(T)₂₁=1.00	del(T)₉=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 2	Sub	46	(T)₂₁=1.00	del(T)₉=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Other	Sub	22	(T)₂₁=0.77	del(T)₉=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.09, delT=0.09, dupT=0.05, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	10	(T)₂₁=1.0	del(T)₉=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(T)₂₁=1.0	del(T)₉=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₂₁=1.0	del(T)₉=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0

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 7	NC_000007.14:g.751583_751591del
GRCh38.p14 chr 7	NC_000007.14:g.751587_751591del
GRCh38.p14 chr 7	NC_000007.14:g.751588_751591del
GRCh38.p14 chr 7	NC_000007.14:g.751589_751591del
GRCh38.p14 chr 7	NC_000007.14:g.751590_751591del
GRCh38.p14 chr 7	NC_000007.14:g.751591del
GRCh38.p14 chr 7	NC_000007.14:g.751591dup
GRCh38.p14 chr 7	NC_000007.14:g.751590_751591dup
GRCh38.p14 chr 7	NC_000007.14:g.751589_751591dup
GRCh38.p14 chr 7	NC_000007.14:g.751585_751591dup
GRCh38.p14 chr 7	NC_000007.14:g.751571_751591T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 7	NC_000007.13:g.791220_791228del
GRCh37.p13 chr 7	NC_000007.13:g.791224_791228del
GRCh37.p13 chr 7	NC_000007.13:g.791225_791228del
GRCh37.p13 chr 7	NC_000007.13:g.791226_791228del
GRCh37.p13 chr 7	NC_000007.13:g.791227_791228del
GRCh37.p13 chr 7	NC_000007.13:g.791228del
GRCh37.p13 chr 7	NC_000007.13:g.791228dup
GRCh37.p13 chr 7	NC_000007.13:g.791227_791228dup
GRCh37.p13 chr 7	NC_000007.13:g.791226_791228dup
GRCh37.p13 chr 7	NC_000007.13:g.791222_791228dup
GRCh37.p13 chr 7	NC_000007.13:g.791208_791228T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
DNAAF5 RefSeqGene	NG_033137.1:g.29883_29891del
DNAAF5 RefSeqGene	NG_033137.1:g.29887_29891del
DNAAF5 RefSeqGene	NG_033137.1:g.29888_29891del
DNAAF5 RefSeqGene	NG_033137.1:g.29889_29891del
DNAAF5 RefSeqGene	NG_033137.1:g.29890_29891del
DNAAF5 RefSeqGene	NG_033137.1:g.29891del
DNAAF5 RefSeqGene	NG_033137.1:g.29891dup
DNAAF5 RefSeqGene	NG_033137.1:g.29890_29891dup
DNAAF5 RefSeqGene	NG_033137.1:g.29889_29891dup
DNAAF5 RefSeqGene	NG_033137.1:g.29885_29891dup
DNAAF5 RefSeqGene	NG_033137.1:g.29871_29891T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Gene: DNAAF5, dynein axonemal assembly factor 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DNAAF5 transcript variant 1	NM_017802.4:c.1025-3006_1… NM_017802.4:c.1025-3006_1025-2998del	N/A	Intron Variant
DNAAF5 transcript variant 2	NR_075098.2:n.	N/A	Intron Variant
DNAAF5 transcript variant X1	XM_024446813.2:c.1025-300… XM_024446813.2:c.1025-3006_1025-2998del	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)₂₁=	del(T)₉	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₇	ins(T)₂₄C(T)₂₅
GRCh38.p14 chr 7	NC_000007.14:g.751571_751591=	NC_000007.14:g.751583_751591del	NC_000007.14:g.751587_751591del	NC_000007.14:g.751588_751591del	NC_000007.14:g.751589_751591del	NC_000007.14:g.751590_751591del	NC_000007.14:g.751591del	NC_000007.14:g.751591dup	NC_000007.14:g.751590_751591dup	NC_000007.14:g.751589_751591dup	NC_000007.14:g.751585_751591dup	NC_000007.14:g.751571_751591T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 7	NC_000007.13:g.791208_791228=	NC_000007.13:g.791220_791228del	NC_000007.13:g.791224_791228del	NC_000007.13:g.791225_791228del	NC_000007.13:g.791226_791228del	NC_000007.13:g.791227_791228del	NC_000007.13:g.791228del	NC_000007.13:g.791228dup	NC_000007.13:g.791227_791228dup	NC_000007.13:g.791226_791228dup	NC_000007.13:g.791222_791228dup	NC_000007.13:g.791208_791228T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
DNAAF5 RefSeqGene	NG_033137.1:g.29871_29891=	NG_033137.1:g.29883_29891del	NG_033137.1:g.29887_29891del	NG_033137.1:g.29888_29891del	NG_033137.1:g.29889_29891del	NG_033137.1:g.29890_29891del	NG_033137.1:g.29891del	NG_033137.1:g.29891dup	NG_033137.1:g.29890_29891dup	NG_033137.1:g.29889_29891dup	NG_033137.1:g.29885_29891dup	NG_033137.1:g.29871_29891T[45]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]
DNAAF5 transcript variant 1	NM_017802.3:c.1025-3018=	NM_017802.3:c.1025-3006_1025-2998del	NM_017802.3:c.1025-3002_1025-2998del	NM_017802.3:c.1025-3001_1025-2998del	NM_017802.3:c.1025-3000_1025-2998del	NM_017802.3:c.1025-2999_1025-2998del	NM_017802.3:c.1025-2998del	NM_017802.3:c.1025-2998dup	NM_017802.3:c.1025-2999_1025-2998dup	NM_017802.3:c.1025-3000_1025-2998dup	NM_017802.3:c.1025-3004_1025-2998dup	NM_017802.3:c.1025-2998_1025-2997insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
DNAAF5 transcript variant 1	NM_017802.4:c.1025-3018=	NM_017802.4:c.1025-3006_1025-2998del	NM_017802.4:c.1025-3002_1025-2998del	NM_017802.4:c.1025-3001_1025-2998del	NM_017802.4:c.1025-3000_1025-2998del	NM_017802.4:c.1025-2999_1025-2998del	NM_017802.4:c.1025-2998del	NM_017802.4:c.1025-2998dup	NM_017802.4:c.1025-2999_1025-2998dup	NM_017802.4:c.1025-3000_1025-2998dup	NM_017802.4:c.1025-3004_1025-2998dup	NM_017802.4:c.1025-2998_1025-2997insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT
DNAAF5 transcript variant X1	XM_024446813.2:c.1025-3018=	XM_024446813.2:c.1025-3006_1025-2998del	XM_024446813.2:c.1025-3002_1025-2998del	XM_024446813.2:c.1025-3001_1025-2998del	XM_024446813.2:c.1025-3000_1025-2998del	XM_024446813.2:c.1025-2999_1025-2998del	XM_024446813.2:c.1025-2998del	XM_024446813.2:c.1025-2998dup	XM_024446813.2:c.1025-2999_1025-2998dup	XM_024446813.2:c.1025-3000_1025-2998dup	XM_024446813.2:c.1025-3004_1025-2998dup	XM_024446813.2:c.1025-2998_1025-2997insTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

44 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95449939	Dec 05, 2013 (138)
2	PJP	ss295321079	May 09, 2011 (138)
3	1000GENOMES	ss1376633443	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1705484536	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1705484563	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710308294	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710308301	Apr 01, 2015 (144)
8	SWEGEN	ss3000448179	Nov 08, 2017 (151)
9	MCHAISSO	ss3064238651	Nov 08, 2017 (151)
10	MCHAISSO	ss3065119272	Nov 08, 2017 (151)
11	MCHAISSO	ss3066122955	Nov 08, 2017 (151)
12	EVA_DECODE	ss3718888229	Jul 13, 2019 (153)
13	EVA_DECODE	ss3718888230	Jul 13, 2019 (153)
14	EVA_DECODE	ss3718888231	Jul 13, 2019 (153)
15	EVA_DECODE	ss3718888232	Jul 13, 2019 (153)
16	EVA_DECODE	ss3718888233	Jul 13, 2019 (153)
17	PACBIO	ss3791021441	Jul 13, 2019 (153)
18	PACBIO	ss3791021442	Jul 13, 2019 (153)
19	PACBIO	ss3795901094	Jul 13, 2019 (153)
20	PACBIO	ss3795901095	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3809219853	Jul 13, 2019 (153)
22	EVA	ss3830355165	Apr 26, 2020 (154)
23	GNOMAD	ss4156616637	Apr 26, 2021 (155)
24	GNOMAD	ss4156616638	Apr 26, 2021 (155)
25	GNOMAD	ss4156616639	Apr 26, 2021 (155)
26	GNOMAD	ss4156616640	Apr 26, 2021 (155)
27	GNOMAD	ss4156616641	Apr 26, 2021 (155)
28	GNOMAD	ss4156616642	Apr 26, 2021 (155)
29	GNOMAD	ss4156616643	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5181320290	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5181320291	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5181320292	Apr 26, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5271438237	Oct 14, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5271438238	Oct 14, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5271438239	Oct 14, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5271438240	Oct 14, 2022 (156)
37	HUGCELL_USP	ss5468773196	Oct 14, 2022 (156)
38	HUGCELL_USP	ss5468773197	Oct 14, 2022 (156)
39	HUGCELL_USP	ss5468773198	Oct 14, 2022 (156)
40	HUGCELL_USP	ss5468773199	Oct 14, 2022 (156)
41	TOMMO_GENOMICS	ss5720624194	Oct 14, 2022 (156)
42	TOMMO_GENOMICS	ss5720624195	Oct 14, 2022 (156)
43	TOMMO_GENOMICS	ss5720624196	Oct 14, 2022 (156)
44	TOMMO_GENOMICS	ss5720624197	Oct 14, 2022 (156)
45	1000Genomes	NC_000007.13 - 791208	Oct 12, 2018 (152)
46	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 19750182 (NC_000007.13:791208:T: 2855/3854) Row 19750183 (NC_000007.13:791207:TTT: 951/3854)	-	Oct 12, 2018 (152)
47	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 19750182 (NC_000007.13:791208:T: 2855/3854) Row 19750183 (NC_000007.13:791207:TTT: 951/3854)	-	Oct 12, 2018 (152)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 249850134 (NC_000007.14:751570::T 404/84448) Row 249850135 (NC_000007.14:751570::TT 8/84448) Row 249850136 (NC_000007.14:751570::TTT 1/84450)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 39289597 (NC_000007.13:791207:T: 4446/16696) Row 39289598 (NC_000007.13:791207:TT: 4913/16696) Row 39289599 (NC_000007.13:791207::T 14/16696)	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 39289597 (NC_000007.13:791207:T: 4446/16696) Row 39289598 (NC_000007.13:791207:TT: 4913/16696) Row 39289599 (NC_000007.13:791207::T 14/16696)	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 39289597 (NC_000007.13:791207:T: 4446/16696) Row 39289598 (NC_000007.13:791207:TT: 4913/16696) Row 39289599 (NC_000007.13:791207::T 14/16696)	-	Apr 26, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 54461298 (NC_000007.14:751570:TT: 8457/28240) Row 54461299 (NC_000007.14:751570:T: 7961/28240) Row 54461300 (NC_000007.14:751570::T 15/28240)...	-	Oct 14, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 54461298 (NC_000007.14:751570:TT: 8457/28240) Row 54461299 (NC_000007.14:751570:T: 7961/28240) Row 54461300 (NC_000007.14:751570::T 15/28240)...	-	Oct 14, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 54461298 (NC_000007.14:751570:TT: 8457/28240) Row 54461299 (NC_000007.14:751570:T: 7961/28240) Row 54461300 (NC_000007.14:751570::T 15/28240)...	-	Oct 14, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 54461298 (NC_000007.14:751570:TT: 8457/28240) Row 54461299 (NC_000007.14:751570:T: 7961/28240) Row 54461300 (NC_000007.14:751570::T 15/28240)...	-	Oct 14, 2022 (156)
63	UK 10K study - Twins Submission ignored due to conflicting rows: Row 19750182 (NC_000007.13:791208:T: 2728/3708) Row 19750183 (NC_000007.13:791207:TTT: 929/3708)	-	Oct 12, 2018 (152)
64	UK 10K study - Twins Submission ignored due to conflicting rows: Row 19750182 (NC_000007.13:791208:T: 2728/3708) Row 19750183 (NC_000007.13:791207:TTT: 929/3708)	-	Oct 12, 2018 (152)
65	ALFA	NC_000007.14 - 751571	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)
rs71020507	Apr 25, 2013 (138)
rs71975786	Dec 02, 2009 (131)
rs146598879	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4156616643	NC_000007.14:751570:TTTTT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4156616642	NC_000007.14:751570:TTTT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1705484536, ss1705484563	NC_000007.13:791207:TTT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3718888229, ss4156616641, ss5271438238, ss5468773197, ss5720624197	NC_000007.14:751570:TTT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss295321079	NC_000007.12:757733:TT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
35410846, ss1376633443, ss3000448179, ss3791021441, ss3795901094, ss3830355165, ss5181320291	NC_000007.13:791207:TT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1710308294, ss1710308301	NC_000007.13:791208:TT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3064238651, ss3065119272, ss3066122955, ss3809219853, ss4156616640, ss5271438237, ss5468773196, ss5720624194	NC_000007.14:751570:TT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3718888230	NC_000007.14:751571:TT:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3791021442, ss3795901095, ss5181320290	NC_000007.13:791207:T:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
	NC_000007.13:791208:T:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5271438239, ss5468773198, ss5720624195	NC_000007.14:751570:T:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3718888231	NC_000007.14:751572:T:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss95449939	NT_007819.17:781227:T:	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5181320292	NC_000007.13:791207::T	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4156616637, ss5271438240, ss5468773199, ss5720624196	NC_000007.14:751570::T	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3718888232	NC_000007.14:751573::T	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss95449939	NT_007819.17:781227:T:TT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4156616638	NC_000007.14:751570::TT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4156616639	NC_000007.14:751570::TTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
11570105229	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3718888233	NC_000007.14:751573::TTTTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000007.14:751570::TTTTTTTTTTTTT… NC_000007.14:751570::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTT	NC_000007.14:751570:TTTTTTTTTTTTTT… NC_000007.14:751570:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11439744

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

rs11439744