Name: rs5885029
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.

rs5885029

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:77671539-77671560 (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)₁₂ / del(T)₁₁ / del(T)₇ / de…
del(T)₁₂ / del(T)₁₁ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.0996 (902/9054, ALFA)
delTT=0.1681 (648/3854, ALSPAC)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: APTR : 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	9054	TTTTTTTTTTTTTTTTTTTTTT=0.8979	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTT=0.0996, TTTTTTTTTTTTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.832927	0.032172	0.134901	32
European	Sub	8104	TTTTTTTTTTTTTTTTTTTTTT=0.8865	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTT=0.1108, TTTTTTTTTTTTTTTTTTTTTTT=0.0021, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.813988	0.035714	0.150298	32
African	Sub	548	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	14	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	534	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	42	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	138	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	46	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	174	TTTTTTTTTTTTTTTTTTTTTT=0.977	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.023, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.965517	0.011494	0.022989	12

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	9054	(T)₂₂=0.8979	del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0002, delT=0.0996, dupT=0.0019, dupTT=0.0000, dupTTT=0.0002, dup(T)₄=0.0001
Allele Frequency Aggregator	European	Sub	8104	(T)₂₂=0.8865	del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0002, delT=0.1108, dupT=0.0021, dupTT=0.0000, dupTTT=0.0002, dup(T)₄=0.0001
Allele Frequency Aggregator	African	Sub	548	(T)₂₂=1.000	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	174	(T)₂₂=0.977	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.023, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	138	(T)₂₂=1.000	del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	46	(T)₂₂=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₅=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, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	42	(T)₂₂=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₅=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, dup(T)₄=0.00
Allele Frequency Aggregator	Asian	Sub	2	(T)₂₂=1.0	del(T)₁₂=0.0, del(T)₁₁=0.0, del(T)₅=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, dup(T)₄=0.0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₂₂=0.8319	delTT=0.1681

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.77671549_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671550_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671554_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671555_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671556_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671557_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671558_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671559_77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671560del
GRCh38.p14 chr 7	NC_000007.14:g.77671560dup
GRCh38.p14 chr 7	NC_000007.14:g.77671559_77671560dup
GRCh38.p14 chr 7	NC_000007.14:g.77671558_77671560dup
GRCh38.p14 chr 7	NC_000007.14:g.77671557_77671560dup
GRCh38.p14 chr 7	NC_000007.14:g.77671546_77671560dup
GRCh37.p13 chr 7	NC_000007.13:g.77300866_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300867_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300871_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300872_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300873_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300874_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300875_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300876_77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300877del
GRCh37.p13 chr 7	NC_000007.13:g.77300877dup
GRCh37.p13 chr 7	NC_000007.13:g.77300876_77300877dup
GRCh37.p13 chr 7	NC_000007.13:g.77300875_77300877dup
GRCh37.p13 chr 7	NC_000007.13:g.77300874_77300877dup
GRCh37.p13 chr 7	NC_000007.13:g.77300863_77300877dup

Gene: APTR, Alu-mediated CDKN1A/p21 transcriptional regulator (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
APTR transcript variant 2	NR_134251.1:n.	N/A	Intron Variant
APTR transcript variant 3	NR_134253.1:n.	N/A	Intron Variant
APTR transcript variant 4	NR_134254.1:n.	N/A	Intron Variant
APTR transcript variant 1	NR_038361.1:n.	N/A	Genic 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)₂₂=	del(T)₁₂	del(T)₁₁	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₁₅
GRCh38.p14 chr 7	NC_000007.14:g.77671539_77671560=	NC_000007.14:g.77671549_77671560del	NC_000007.14:g.77671550_77671560del	NC_000007.14:g.77671554_77671560del	NC_000007.14:g.77671555_77671560del	NC_000007.14:g.77671556_77671560del	NC_000007.14:g.77671557_77671560del	NC_000007.14:g.77671558_77671560del	NC_000007.14:g.77671559_77671560del	NC_000007.14:g.77671560del	NC_000007.14:g.77671560dup	NC_000007.14:g.77671559_77671560dup	NC_000007.14:g.77671558_77671560dup	NC_000007.14:g.77671557_77671560dup	NC_000007.14:g.77671546_77671560dup
GRCh37.p13 chr 7	NC_000007.13:g.77300856_77300877=	NC_000007.13:g.77300866_77300877del	NC_000007.13:g.77300867_77300877del	NC_000007.13:g.77300871_77300877del	NC_000007.13:g.77300872_77300877del	NC_000007.13:g.77300873_77300877del	NC_000007.13:g.77300874_77300877del	NC_000007.13:g.77300875_77300877del	NC_000007.13:g.77300876_77300877del	NC_000007.13:g.77300877del	NC_000007.13:g.77300877dup	NC_000007.13:g.77300876_77300877dup	NC_000007.13:g.77300875_77300877dup	NC_000007.13:g.77300874_77300877dup	NC_000007.13:g.77300863_77300877dup

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#.

38 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42980521	Mar 15, 2006 (126)
2	HGSV	ss83279082	Dec 16, 2007 (130)
3	EVA_UK10K_ALSPAC	ss1705690844	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1705690896	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1710331596	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710337214	Apr 01, 2015 (144)
7	SWEGEN	ss3001465980	Nov 08, 2017 (151)
8	MCHAISSO	ss3064260860	Nov 08, 2017 (151)
9	URBANLAB	ss3648677888	Oct 12, 2018 (152)
10	PACBIO	ss3791160359	Jul 13, 2019 (153)
11	PACBIO	ss3796040247	Jul 13, 2019 (153)
12	EVA	ss3830650125	Apr 26, 2020 (154)
13	GNOMAD	ss4166674878	Apr 26, 2021 (155)
14	GNOMAD	ss4166674879	Apr 26, 2021 (155)
15	GNOMAD	ss4166674880	Apr 26, 2021 (155)
16	GNOMAD	ss4166674881	Apr 26, 2021 (155)
17	GNOMAD	ss4166674882	Apr 26, 2021 (155)
18	GNOMAD	ss4166674883	Apr 26, 2021 (155)
19	GNOMAD	ss4166674884	Apr 26, 2021 (155)
20	GNOMAD	ss4166674885	Apr 26, 2021 (155)
21	GNOMAD	ss4166674886	Apr 26, 2021 (155)
22	GNOMAD	ss4166674887	Apr 26, 2021 (155)
23	GNOMAD	ss4166674888	Apr 26, 2021 (155)
24	GNOMAD	ss4166674889	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5183975394	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5183975395	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5183975396	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5273504462	Oct 17, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5273504463	Oct 17, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5273504464	Oct 17, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5273504465	Oct 17, 2022 (156)
32	HUGCELL_USP	ss5470524428	Oct 17, 2022 (156)
33	HUGCELL_USP	ss5470524429	Oct 17, 2022 (156)
34	HUGCELL_USP	ss5470524430	Oct 17, 2022 (156)
35	TOMMO_GENOMICS	ss5724485200	Oct 17, 2022 (156)
36	TOMMO_GENOMICS	ss5724485201	Oct 17, 2022 (156)
37	TOMMO_GENOMICS	ss5724485202	Oct 17, 2022 (156)
38	EVA	ss5855959927	Oct 17, 2022 (156)
39	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 77300856	Oct 12, 2018 (152)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 266161197 (NC_000007.14:77671538::T 474/106924) Row 266161198 (NC_000007.14:77671538::TT 10/106944) Row 266161199 (NC_000007.14:77671538::TTT 6/106956)...	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 41944701 (NC_000007.13:77300855:T: 10738/16476) Row 41944702 (NC_000007.13:77300855:TT: 171/16476) Row 41944703 (NC_000007.13:77300855::T 21/16476)	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 41944701 (NC_000007.13:77300855:T: 10738/16476) Row 41944702 (NC_000007.13:77300855:TT: 171/16476) Row 41944703 (NC_000007.13:77300855::T 21/16476)	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 41944701 (NC_000007.13:77300855:T: 10738/16476) Row 41944702 (NC_000007.13:77300855:TT: 171/16476) Row 41944703 (NC_000007.13:77300855::T 21/16476)	-	Apr 26, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 58322304 (NC_000007.14:77671538:T: 18531/28002) Row 58322305 (NC_000007.14:77671538:TT: 267/28002) Row 58322306 (NC_000007.14:77671538::T 47/28002)	-	Oct 17, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 58322304 (NC_000007.14:77671538:T: 18531/28002) Row 58322305 (NC_000007.14:77671538:TT: 267/28002) Row 58322306 (NC_000007.14:77671538::T 47/28002)	-	Oct 17, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 58322304 (NC_000007.14:77671538:T: 18531/28002) Row 58322305 (NC_000007.14:77671538:TT: 267/28002) Row 58322306 (NC_000007.14:77671538::T 47/28002)	-	Oct 17, 2022 (156)
59	UK 10K study - Twins	-	Oct 12, 2018 (152)
60	UK 10K study - Twins Submission ignored due to conflicting rows: Row 20996142 (NC_000007.13:77300855:TT: 677/3708) Row 20996143 (NC_000007.13:77300856:T: 1159/3708)	-	Apr 26, 2020 (154)
61	ALFA	NC_000007.14 - 77671539	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)
rs61413273	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4166674889	NC_000007.14:77671538:TTTTTTTTTTTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3001465980	NC_000007.13:77300855:TTTTTTTTTTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4166674888	NC_000007.14:77671538:TTTTTTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4166674887	NC_000007.14:77671538:TTTTTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4166674886	NC_000007.14:77671538:TTTTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4166674885	NC_000007.14:77671538:TTTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4166674884	NC_000007.14:77671538:TTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
20996142, ss1705690844, ss1705690896, ss5183975395	NC_000007.13:77300855:TT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4166674883, ss5273504463, ss5470524429, ss5724485201, ss5855959927	NC_000007.14:77671538:TT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss83279082	NC_000007.11:76945527:T:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3791160359, ss3796040247, ss3830650125, ss5183975394	NC_000007.13:77300855:T:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss1710331596, ss1710337214	NC_000007.13:77300856:T:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3064260860, ss3648677888, ss5273504462, ss5470524428, ss5724485200	NC_000007.14:77671538:T:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss42980521	NT_007933.15:15333719:T:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5183975396	NC_000007.13:77300855::T	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4166674878, ss5273504464, ss5470524430, ss5724485202	NC_000007.14:77671538::T	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4166674879	NC_000007.14:77671538::TT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4166674880, ss5273504465	NC_000007.14:77671538::TTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4166674881	NC_000007.14:77671538::TTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
14070756559	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4166674882	NC_000007.14:77671538::TTTTTTTTTTT… NC_000007.14:77671538::TTTTTTTTTTTTTTT	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3535004399	NC_000007.14:77671538:TTTTTTTTTTT:	NC_000007.14:77671538:TTTTTTTTTTTT… NC_000007.14:77671538:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs5885029

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

rs5885029