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dbSNP Short Genetic Variations

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.

rs534284469

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:14579983-14579997 (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
delAAA / delAA / delA / dupA / dup…

delAAA / delAA / delA / dupA / dupAA / dup(A)11

Variation Type
Indel Insertion and Deletion
Frequency
delAA=0.0000 (0/6920, ALFA)
delA=0.0000 (0/6920, ALFA)
dupA=0.0000 (0/6920, ALFA) (+ 4 more)
dupAA=0.0000 (0/6920, ALFA)
delA=0.1747 (875/5008, 1000G)
delA=0.2595 (1000/3854, ALSPAC)
delA=0.2627 (974/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARN : 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 6920 AAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 3828 AAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2102 AAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 98 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 2004 AAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 106 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 82 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 80 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 452 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 54 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 298 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 6920 (A)15=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator European Sub 3828 (A)15=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator African Sub 2102 (A)15=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 452 (A)15=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 298 (A)15=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Asian Sub 106 (A)15=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 80 (A)15=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator South Asian Sub 54 (A)15=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
1000Genomes Global Study-wide 5008 (A)15=0.8253 delA=0.1747
1000Genomes African Sub 1322 (A)15=0.8434 delA=0.1566
1000Genomes East Asian Sub 1008 (A)15=0.9425 delA=0.0575
1000Genomes Europe Sub 1006 (A)15=0.7087 delA=0.2913
1000Genomes South Asian Sub 978 (A)15=0.812 delA=0.188
1000Genomes American Sub 694 (A)15=0.808 delA=0.192
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (A)15=0.7405 delA=0.2595
UK 10K study - Twins TWIN COHORT Study-wide 3708 (A)15=0.7373 delA=0.2627
Help

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 16 NC_000016.10:g.14579995_14579997del
GRCh38.p14 chr 16 NC_000016.10:g.14579996_14579997del
GRCh38.p14 chr 16 NC_000016.10:g.14579997del
GRCh38.p14 chr 16 NC_000016.10:g.14579997dup
GRCh38.p14 chr 16 NC_000016.10:g.14579996_14579997dup
GRCh38.p14 chr 16 NC_000016.10:g.14579987_14579997dup
GRCh37.p13 chr 16 NC_000016.9:g.14673852_14673854del
GRCh37.p13 chr 16 NC_000016.9:g.14673853_14673854del
GRCh37.p13 chr 16 NC_000016.9:g.14673854del
GRCh37.p13 chr 16 NC_000016.9:g.14673854dup
GRCh37.p13 chr 16 NC_000016.9:g.14673853_14673854dup
GRCh37.p13 chr 16 NC_000016.9:g.14673844_14673854dup
A RefSeqGene (LRG_1286) NG_042871.1:g.55287_55289del
A RefSeqGene (LRG_1286) NG_042871.1:g.55288_55289del
A RefSeqGene (LRG_1286) NG_042871.1:g.55289del
A RefSeqGene (LRG_1286) NG_042871.1:g.55289dup
A RefSeqGene (LRG_1286) NG_042871.1:g.55288_55289dup
A RefSeqGene (LRG_1286) NG_042871.1:g.55279_55289dup
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.152852_152854del
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.152853_152854del
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.152854del
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.152854dup
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.152853_152854dup
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.152844_152854dup
Gene: PARN, poly(A)-specific ribonuclease (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARN transcript variant 2 NM_001134477.3:c.1079+889…

NM_001134477.3:c.1079+889_1079+891del

N/A Intron Variant
PARN transcript variant 3 NM_001242992.2:c.1124+889…

NM_001242992.2:c.1124+889_1124+891del

N/A Intron Variant
PARN transcript variant 1 NM_002582.4:c.1262+889_12…

NM_002582.4:c.1262+889_1262+891del

N/A Intron Variant
PARN transcript variant X9 XM_011522514.3:c.1262+889…

XM_011522514.3:c.1262+889_1262+891del

N/A Intron Variant
PARN transcript variant X1 XM_047434181.1:c.1262+889…

XM_047434181.1:c.1262+889_1262+891del

N/A Intron Variant
PARN transcript variant X2 XM_047434182.1:c.1262+889…

XM_047434182.1:c.1262+889_1262+891del

N/A Intron Variant
PARN transcript variant X6 XM_047434183.1:c.1079+889…

XM_047434183.1:c.1079+889_1079+891del

N/A Intron Variant
PARN transcript variant X7 XM_047434184.1:c.1079+889…

XM_047434184.1:c.1079+889_1079+891del

N/A Intron Variant
PARN transcript variant X10 XM_047434185.1:c. N/A Genic Downstream Transcript Variant
PARN transcript variant X3 XR_007064881.1:n. N/A Intron Variant
PARN transcript variant X4 XR_007064882.1:n. N/A Intron Variant
PARN transcript variant X5 XR_007064883.1:n. N/A Intron Variant
PARN transcript variant X8 XR_007064884.1:n. N/A Intron Variant
Help

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
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)15= delAAA delAA delA dupA dupAA dup(A)11
GRCh38.p14 chr 16 NC_000016.10:g.14579983_14579997= NC_000016.10:g.14579995_14579997del NC_000016.10:g.14579996_14579997del NC_000016.10:g.14579997del NC_000016.10:g.14579997dup NC_000016.10:g.14579996_14579997dup NC_000016.10:g.14579987_14579997dup
GRCh37.p13 chr 16 NC_000016.9:g.14673840_14673854= NC_000016.9:g.14673852_14673854del NC_000016.9:g.14673853_14673854del NC_000016.9:g.14673854del NC_000016.9:g.14673854dup NC_000016.9:g.14673853_14673854dup NC_000016.9:g.14673844_14673854dup
A RefSeqGene (LRG_1286) NG_042871.1:g.55275_55289= NG_042871.1:g.55287_55289del NG_042871.1:g.55288_55289del NG_042871.1:g.55289del NG_042871.1:g.55289dup NG_042871.1:g.55288_55289dup NG_042871.1:g.55279_55289dup
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.152840_152854= NT_187607.1:g.152852_152854del NT_187607.1:g.152853_152854del NT_187607.1:g.152854del NT_187607.1:g.152854dup NT_187607.1:g.152853_152854dup NT_187607.1:g.152844_152854dup
PARN transcript variant 2 NM_001134477.2:c.1079+891= NM_001134477.2:c.1079+889_1079+891del NM_001134477.2:c.1079+890_1079+891del NM_001134477.2:c.1079+891del NM_001134477.2:c.1079+891dup NM_001134477.2:c.1079+890_1079+891dup NM_001134477.2:c.1079+881_1079+891dup
PARN transcript variant 2 NM_001134477.3:c.1079+891= NM_001134477.3:c.1079+889_1079+891del NM_001134477.3:c.1079+890_1079+891del NM_001134477.3:c.1079+891del NM_001134477.3:c.1079+891dup NM_001134477.3:c.1079+890_1079+891dup NM_001134477.3:c.1079+881_1079+891dup
PARN transcript variant 3 NM_001242992.1:c.1124+891= NM_001242992.1:c.1124+889_1124+891del NM_001242992.1:c.1124+890_1124+891del NM_001242992.1:c.1124+891del NM_001242992.1:c.1124+891dup NM_001242992.1:c.1124+890_1124+891dup NM_001242992.1:c.1124+881_1124+891dup
PARN transcript variant 3 NM_001242992.2:c.1124+891= NM_001242992.2:c.1124+889_1124+891del NM_001242992.2:c.1124+890_1124+891del NM_001242992.2:c.1124+891del NM_001242992.2:c.1124+891dup NM_001242992.2:c.1124+890_1124+891dup NM_001242992.2:c.1124+881_1124+891dup
PARN transcript variant 1 NM_002582.3:c.1262+891= NM_002582.3:c.1262+889_1262+891del NM_002582.3:c.1262+890_1262+891del NM_002582.3:c.1262+891del NM_002582.3:c.1262+891dup NM_002582.3:c.1262+890_1262+891dup NM_002582.3:c.1262+881_1262+891dup
PARN transcript variant 1 NM_002582.4:c.1262+891= NM_002582.4:c.1262+889_1262+891del NM_002582.4:c.1262+890_1262+891del NM_002582.4:c.1262+891del NM_002582.4:c.1262+891dup NM_002582.4:c.1262+890_1262+891dup NM_002582.4:c.1262+881_1262+891dup
PARN transcript variant X1 XM_005255341.1:c.737+891= XM_005255341.1:c.737+889_737+891del XM_005255341.1:c.737+890_737+891del XM_005255341.1:c.737+891del XM_005255341.1:c.737+891dup XM_005255341.1:c.737+890_737+891dup XM_005255341.1:c.737+881_737+891dup
PARN transcript variant X9 XM_011522514.3:c.1262+891= XM_011522514.3:c.1262+889_1262+891del XM_011522514.3:c.1262+890_1262+891del XM_011522514.3:c.1262+891del XM_011522514.3:c.1262+891dup XM_011522514.3:c.1262+890_1262+891dup XM_011522514.3:c.1262+881_1262+891dup
PARN transcript variant X1 XM_047434181.1:c.1262+891= XM_047434181.1:c.1262+889_1262+891del XM_047434181.1:c.1262+890_1262+891del XM_047434181.1:c.1262+891del XM_047434181.1:c.1262+891dup XM_047434181.1:c.1262+890_1262+891dup XM_047434181.1:c.1262+881_1262+891dup
PARN transcript variant X2 XM_047434182.1:c.1262+891= XM_047434182.1:c.1262+889_1262+891del XM_047434182.1:c.1262+890_1262+891del XM_047434182.1:c.1262+891del XM_047434182.1:c.1262+891dup XM_047434182.1:c.1262+890_1262+891dup XM_047434182.1:c.1262+881_1262+891dup
PARN transcript variant X6 XM_047434183.1:c.1079+891= XM_047434183.1:c.1079+889_1079+891del XM_047434183.1:c.1079+890_1079+891del XM_047434183.1:c.1079+891del XM_047434183.1:c.1079+891dup XM_047434183.1:c.1079+890_1079+891dup XM_047434183.1:c.1079+881_1079+891dup
PARN transcript variant X7 XM_047434184.1:c.1079+891= XM_047434184.1:c.1079+889_1079+891del XM_047434184.1:c.1079+890_1079+891del XM_047434184.1:c.1079+891del XM_047434184.1:c.1079+891dup XM_047434184.1:c.1079+890_1079+891dup XM_047434184.1:c.1079+881_1079+891dup
Help

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#.

32 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1375600010 Aug 21, 2014 (142)
2 EVA_UK10K_ALSPAC ss1708482761 Apr 01, 2015 (144)
3 EVA_UK10K_TWINSUK ss1708482785 Apr 01, 2015 (144)
4 PADH-LAB_SPU ss1751353269 Sep 08, 2015 (146)
5 SWEGEN ss3014135636 Nov 08, 2017 (151)
6 EVA_DECODE ss3698926512 Jul 13, 2019 (153)
7 EVA_DECODE ss3698926513 Jul 13, 2019 (153)
8 EVA_DECODE ss3698926514 Jul 13, 2019 (153)
9 EVA_DECODE ss3698926515 Jul 13, 2019 (153)
10 ACPOP ss3741374660 Jul 13, 2019 (153)
11 ACPOP ss3741374661 Jul 13, 2019 (153)
12 PACBIO ss3787992680 Jul 13, 2019 (153)
13 KHV_HUMAN_GENOMES ss3819036140 Jul 13, 2019 (153)
14 EVA ss3834497659 Apr 27, 2020 (154)
15 EVA ss3840854206 Apr 27, 2020 (154)
16 EVA ss3846345630 Apr 27, 2020 (154)
17 GNOMAD ss4297598831 Apr 26, 2021 (155)
18 GNOMAD ss4297598832 Apr 26, 2021 (155)
19 GNOMAD ss4297598833 Apr 26, 2021 (155)
20 GNOMAD ss4297598834 Apr 26, 2021 (155)
21 GNOMAD ss4297598835 Apr 26, 2021 (155)
22 GNOMAD ss4297598836 Apr 26, 2021 (155)
23 TOMMO_GENOMICS ss5218615124 Apr 26, 2021 (155)
24 TOMMO_GENOMICS ss5218615125 Apr 26, 2021 (155)
25 1000G_HIGH_COVERAGE ss5300286687 Oct 17, 2022 (156)
26 1000G_HIGH_COVERAGE ss5300286689 Oct 17, 2022 (156)
27 HUGCELL_USP ss5493800490 Oct 17, 2022 (156)
28 HUGCELL_USP ss5493800491 Oct 17, 2022 (156)
29 TOMMO_GENOMICS ss5773151508 Oct 17, 2022 (156)
30 TOMMO_GENOMICS ss5773151509 Oct 17, 2022 (156)
31 YY_MCH ss5815794931 Oct 17, 2022 (156)
32 EVA ss5949986474 Oct 17, 2022 (156)
33 1000Genomes NC_000016.9 - 14673840 Oct 12, 2018 (152)
34 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 14673840 Oct 12, 2018 (152)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484058128 (NC_000016.10:14579982::A 2248/105622)
Row 484058129 (NC_000016.10:14579982::AA 6/105734)
Row 484058130 (NC_000016.10:14579982::AAAAAAAAAAA 1/105736)...

- Apr 26, 2021 (155)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484058128 (NC_000016.10:14579982::A 2248/105622)
Row 484058129 (NC_000016.10:14579982::AA 6/105734)
Row 484058130 (NC_000016.10:14579982::AAAAAAAAAAA 1/105736)...

- Apr 26, 2021 (155)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484058128 (NC_000016.10:14579982::A 2248/105622)
Row 484058129 (NC_000016.10:14579982::AA 6/105734)
Row 484058130 (NC_000016.10:14579982::AAAAAAAAAAA 1/105736)...

- Apr 26, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484058128 (NC_000016.10:14579982::A 2248/105622)
Row 484058129 (NC_000016.10:14579982::AA 6/105734)
Row 484058130 (NC_000016.10:14579982::AAAAAAAAAAA 1/105736)...

- Apr 26, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484058128 (NC_000016.10:14579982::A 2248/105622)
Row 484058129 (NC_000016.10:14579982::AA 6/105734)
Row 484058130 (NC_000016.10:14579982::AAAAAAAAAAA 1/105736)...

- Apr 26, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 484058128 (NC_000016.10:14579982::A 2248/105622)
Row 484058129 (NC_000016.10:14579982::AA 6/105734)
Row 484058130 (NC_000016.10:14579982::AAAAAAAAAAA 1/105736)...

- Apr 26, 2021 (155)
41 Northern Sweden

Submission ignored due to conflicting rows:
Row 14659525 (NC_000016.9:14673839:A: 144/534)
Row 14659526 (NC_000016.9:14673839::A 10/534)

- Jul 13, 2019 (153)
42 Northern Sweden

Submission ignored due to conflicting rows:
Row 14659525 (NC_000016.9:14673839:A: 144/534)
Row 14659526 (NC_000016.9:14673839::A 10/534)

- Jul 13, 2019 (153)
43 8.3KJPN

Submission ignored due to conflicting rows:
Row 76584431 (NC_000016.9:14673839:A: 148/16760)
Row 76584432 (NC_000016.9:14673839::A 11/16760)

- Apr 26, 2021 (155)
44 8.3KJPN

Submission ignored due to conflicting rows:
Row 76584431 (NC_000016.9:14673839:A: 148/16760)
Row 76584432 (NC_000016.9:14673839::A 11/16760)

- Apr 26, 2021 (155)
45 14KJPN

Submission ignored due to conflicting rows:
Row 106988612 (NC_000016.10:14579982:A: 246/28258)
Row 106988613 (NC_000016.10:14579982::A 18/28258)

- Oct 17, 2022 (156)
46 14KJPN

Submission ignored due to conflicting rows:
Row 106988612 (NC_000016.10:14579982:A: 246/28258)
Row 106988613 (NC_000016.10:14579982::A 18/28258)

- Oct 17, 2022 (156)
47 UK 10K study - Twins NC_000016.9 - 14673840 Oct 12, 2018 (152)
48 ALFA NC_000016.10 - 14579983 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3698926515, ss4297598836 NC_000016.10:14579982:AAA: NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4297598835 NC_000016.10:14579982:AA: NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
6292021842 NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3698926514 NC_000016.10:14579983:AA: NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
68700081, 38148915, 38148915, ss1375600010, ss1708482761, ss1708482785, ss1751353269, ss3014135636, ss3741374660, ss3787992680, ss3834497659, ss3840854206, ss5218615124, ss5949986474 NC_000016.9:14673839:A: NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3819036140, ss3846345630, ss4297598834, ss5300286687, ss5493800490, ss5773151508 NC_000016.10:14579982:A: NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
6292021842 NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3698926513 NC_000016.10:14579984:A: NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3741374661, ss5218615125 NC_000016.9:14673839::A NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4297598831, ss5300286689, ss5493800491, ss5773151509, ss5815794931 NC_000016.10:14579982::A NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
6292021842 NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3698926512 NC_000016.10:14579985::A NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4297598832 NC_000016.10:14579982::AA NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
6292021842 NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4297598833 NC_000016.10:14579982::AAAAAAAAAAA NC_000016.10:14579982:AAAAAAAAAAAA…

NC_000016.10:14579982:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Help

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

No publications for rs534284469

Help

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.

Software version is: 2.0.1.post820+afb47a3d