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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.

rs34423406

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:113160243-113160260 (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(A)7 / del(A)5 / del(A)4 / delA…

del(A)7 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA

Variation Type
Indel Insertion and Deletion
Frequency
(A)18=0.2157 (1080/5008, 1000G)
del(A)7=0.000 (0/172, ALFA)
del(A)4=0.000 (0/172, ALFA) (+ 6 more)
delAAA=0.000 (0/172, ALFA)
delAA=0.000 (0/172, ALFA)
delA=0.000 (0/172, ALFA)
dupA=0.000 (0/172, ALFA)
dupAA=0.000 (0/172, ALFA)
dupAAA=0.000 (0/172, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 172 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African Sub 162 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 4 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 158 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 2 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 6 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 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
1000Genomes Global Study-wide 5008 (A)18=0.2157 delAA=0.7843
1000Genomes African Sub 1322 (A)18=0.3979 delAA=0.6021
1000Genomes East Asian Sub 1008 (A)18=0.2004 delAA=0.7996
1000Genomes Europe Sub 1006 (A)18=0.1272 delAA=0.8728
1000Genomes South Asian Sub 978 (A)18=0.121 delAA=0.879
1000Genomes American Sub 694 (A)18=0.153 delAA=0.847
Allele Frequency Aggregator Total Global 172 (A)18=1.000 del(A)7=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator African Sub 162 (A)18=1.000 del(A)7=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Other Sub 6 (A)18=1.0 del(A)7=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator European Sub 2 (A)18=1.0 del(A)7=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator Latin American 2 Sub 2 (A)18=1.0 del(A)7=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)18=0 del(A)7=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator South Asian Sub 0 (A)18=0 del(A)7=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator Asian Sub 0 (A)18=0 del(A)7=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
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 2 NC_000002.12:g.113160254_113160260del
GRCh38.p14 chr 2 NC_000002.12:g.113160256_113160260del
GRCh38.p14 chr 2 NC_000002.12:g.113160257_113160260del
GRCh38.p14 chr 2 NC_000002.12:g.113160258_113160260del
GRCh38.p14 chr 2 NC_000002.12:g.113160259_113160260del
GRCh38.p14 chr 2 NC_000002.12:g.113160260del
GRCh38.p14 chr 2 NC_000002.12:g.113160260dup
GRCh38.p14 chr 2 NC_000002.12:g.113160259_113160260dup
GRCh38.p14 chr 2 NC_000002.12:g.113160258_113160260dup
GRCh37.p13 chr 2 NC_000002.11:g.113917831_113917837del
GRCh37.p13 chr 2 NC_000002.11:g.113917833_113917837del
GRCh37.p13 chr 2 NC_000002.11:g.113917834_113917837del
GRCh37.p13 chr 2 NC_000002.11:g.113917835_113917837del
GRCh37.p13 chr 2 NC_000002.11:g.113917836_113917837del
GRCh37.p13 chr 2 NC_000002.11:g.113917837del
GRCh37.p13 chr 2 NC_000002.11:g.113917837dup
GRCh37.p13 chr 2 NC_000002.11:g.113917836_113917837dup
GRCh37.p13 chr 2 NC_000002.11:g.113917835_113917837dup
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)18= del(A)7 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA
GRCh38.p14 chr 2 NC_000002.12:g.113160243_113160260= NC_000002.12:g.113160254_113160260del NC_000002.12:g.113160256_113160260del NC_000002.12:g.113160257_113160260del NC_000002.12:g.113160258_113160260del NC_000002.12:g.113160259_113160260del NC_000002.12:g.113160260del NC_000002.12:g.113160260dup NC_000002.12:g.113160259_113160260dup NC_000002.12:g.113160258_113160260dup
GRCh37.p13 chr 2 NC_000002.11:g.113917820_113917837= NC_000002.11:g.113917831_113917837del NC_000002.11:g.113917833_113917837del NC_000002.11:g.113917834_113917837del NC_000002.11:g.113917835_113917837del NC_000002.11:g.113917836_113917837del NC_000002.11:g.113917837del NC_000002.11:g.113917837dup NC_000002.11:g.113917836_113917837dup NC_000002.11:g.113917835_113917837dup
PSD4 transcript variant X1 XM_005263634.1:c.-112+2708= XM_005263634.1:c.-112+2719_-112+2725del XM_005263634.1:c.-112+2721_-112+2725del XM_005263634.1:c.-112+2722_-112+2725del XM_005263634.1:c.-112+2723_-112+2725del XM_005263634.1:c.-112+2724_-112+2725del XM_005263634.1:c.-112+2725del XM_005263634.1:c.-112+2725dup XM_005263634.1:c.-112+2724_-112+2725dup XM_005263634.1:c.-112+2723_-112+2725dup
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#.

50 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41590441 Mar 13, 2006 (126)
2 HGSV ss82271864 Sep 08, 2015 (146)
3 GMI ss288205618 May 04, 2012 (137)
4 GMI ss288205620 May 04, 2012 (137)
5 BILGI_BIOE ss666160591 Apr 25, 2013 (138)
6 1000GENOMES ss1368623805 Aug 21, 2014 (142)
7 EVA_UK10K_ALSPAC ss1703000757 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1703000795 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1710019286 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710019298 Apr 01, 2015 (144)
11 SWEGEN ss2990201484 Nov 08, 2017 (151)
12 BIOINF_KMB_FNS_UNIBA ss3645572056 Oct 11, 2018 (152)
13 EVA_DECODE ss3704645942 Jul 13, 2019 (153)
14 EVA_DECODE ss3704645943 Jul 13, 2019 (153)
15 EVA_DECODE ss3704645944 Jul 13, 2019 (153)
16 ACPOP ss3728757087 Jul 13, 2019 (153)
17 ACPOP ss3728757088 Jul 13, 2019 (153)
18 PACBIO ss3783960644 Jul 13, 2019 (153)
19 PACBIO ss3783960645 Jul 13, 2019 (153)
20 PACBIO ss3789529660 Jul 13, 2019 (153)
21 PACBIO ss3794402453 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3801591202 Jul 13, 2019 (153)
23 EVA ss3827157907 Apr 25, 2020 (154)
24 EVA ss3836992984 Apr 25, 2020 (154)
25 EVA ss3842411387 Apr 25, 2020 (154)
26 GNOMAD ss4048526428 Apr 26, 2021 (155)
27 GNOMAD ss4048526429 Apr 26, 2021 (155)
28 GNOMAD ss4048526430 Apr 26, 2021 (155)
29 GNOMAD ss4048526431 Apr 26, 2021 (155)
30 GNOMAD ss4048526432 Apr 26, 2021 (155)
31 GNOMAD ss4048526433 Apr 26, 2021 (155)
32 GNOMAD ss4048526434 Apr 26, 2021 (155)
33 GNOMAD ss4048526435 Apr 26, 2021 (155)
34 GNOMAD ss4048526436 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5153265638 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5153265639 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5153265640 Apr 26, 2021 (155)
38 1000G_HIGH_COVERAGE ss5249547077 Oct 12, 2022 (156)
39 1000G_HIGH_COVERAGE ss5249547078 Oct 12, 2022 (156)
40 1000G_HIGH_COVERAGE ss5249547079 Oct 12, 2022 (156)
41 1000G_HIGH_COVERAGE ss5249547080 Oct 12, 2022 (156)
42 HUGCELL_USP ss5449438507 Oct 12, 2022 (156)
43 HUGCELL_USP ss5449438508 Oct 12, 2022 (156)
44 TOMMO_GENOMICS ss5683212227 Oct 12, 2022 (156)
45 TOMMO_GENOMICS ss5683212228 Oct 12, 2022 (156)
46 TOMMO_GENOMICS ss5683212229 Oct 12, 2022 (156)
47 TOMMO_GENOMICS ss5683212230 Oct 12, 2022 (156)
48 EVA ss5820624188 Oct 12, 2022 (156)
49 EVA ss5820624189 Oct 12, 2022 (156)
50 EVA ss5931869861 Oct 12, 2022 (156)
51 1000Genomes NC_000002.11 - 113917820 Oct 11, 2018 (152)
52 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 5408746 (NC_000002.11:113917820:A: 3431/3854)
Row 5408747 (NC_000002.11:113917819:AAA: 423/3854)

- Oct 11, 2018 (152)
53 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 5408746 (NC_000002.11:113917820:A: 3431/3854)
Row 5408747 (NC_000002.11:113917819:AAA: 423/3854)

- Oct 11, 2018 (152)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

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

Submission ignored due to conflicting rows:
Row 70016564 (NC_000002.12:113160242::A 71/128782)
Row 70016565 (NC_000002.12:113160242::AA 1/128788)
Row 70016566 (NC_000002.12:113160242::AAA 1/128790)...

- Apr 26, 2021 (155)
63 Northern Sweden

Submission ignored due to conflicting rows:
Row 2041952 (NC_000002.11:113917819:AA: 226/536)
Row 2041953 (NC_000002.11:113917819:A: 198/536)

- Jul 13, 2019 (153)
64 Northern Sweden

Submission ignored due to conflicting rows:
Row 2041952 (NC_000002.11:113917819:AA: 226/536)
Row 2041953 (NC_000002.11:113917819:A: 198/536)

- Jul 13, 2019 (153)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 11234945 (NC_000002.11:113917819:A: 14517/16758)
Row 11234946 (NC_000002.11:113917819:AA: 1802/16758)
Row 11234947 (NC_000002.11:113917819:AAA: 5/16758)

- Apr 26, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 11234945 (NC_000002.11:113917819:A: 14517/16758)
Row 11234946 (NC_000002.11:113917819:AA: 1802/16758)
Row 11234947 (NC_000002.11:113917819:AAA: 5/16758)

- Apr 26, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 11234945 (NC_000002.11:113917819:A: 14517/16758)
Row 11234946 (NC_000002.11:113917819:AA: 1802/16758)
Row 11234947 (NC_000002.11:113917819:AAA: 5/16758)

- Apr 26, 2021 (155)
68 14KJPN

Submission ignored due to conflicting rows:
Row 17049331 (NC_000002.12:113160242:A: 24521/28256)
Row 17049332 (NC_000002.12:113160242:AA: 3008/28256)
Row 17049333 (NC_000002.12:113160242:AAA: 14/28256)...

- Oct 12, 2022 (156)
69 14KJPN

Submission ignored due to conflicting rows:
Row 17049331 (NC_000002.12:113160242:A: 24521/28256)
Row 17049332 (NC_000002.12:113160242:AA: 3008/28256)
Row 17049333 (NC_000002.12:113160242:AAA: 14/28256)...

- Oct 12, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 17049331 (NC_000002.12:113160242:A: 24521/28256)
Row 17049332 (NC_000002.12:113160242:AA: 3008/28256)
Row 17049333 (NC_000002.12:113160242:AAA: 14/28256)...

- Oct 12, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 17049331 (NC_000002.12:113160242:A: 24521/28256)
Row 17049332 (NC_000002.12:113160242:AA: 3008/28256)
Row 17049333 (NC_000002.12:113160242:AAA: 14/28256)...

- Oct 12, 2022 (156)
72 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 5408746 (NC_000002.11:113917820:A: 3314/3708)
Row 5408747 (NC_000002.11:113917819:AAA: 394/3708)

- Oct 11, 2018 (152)
73 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 5408746 (NC_000002.11:113917820:A: 3314/3708)
Row 5408747 (NC_000002.11:113917819:AAA: 394/3708)

- Oct 11, 2018 (152)
74 ALFA NC_000002.12 - 113160243 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).

Associated ID History Updated (Build)
rs58648513 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4048526436 NC_000002.12:113160242:AAAAAAA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4048526435 NC_000002.12:113160242:AAAAA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4048526434 NC_000002.12:113160242:AAAA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1703000757, ss1703000795, ss2990201484, ss3783960644, ss5153265640, ss5820624189 NC_000002.11:113917819:AAA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3704645944, ss4048526433, ss5249547079, ss5683212229 NC_000002.12:113160242:AAA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss288205620 NC_000002.10:113634290:AA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
9803096, ss666160591, ss1368623805, ss3728757087, ss3783960645, ss3789529660, ss3794402453, ss3836992984, ss5153265639, ss5820624188 NC_000002.11:113917819:AA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1710019286, ss1710019298 NC_000002.11:113917820:AA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3645572056, ss3801591202, ss3842411387, ss4048526432, ss5249547078, ss5449438507, ss5683212228 NC_000002.12:113160242:AA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3704645943 NC_000002.12:113160243:AA: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss82271864 NC_000002.9:113634067:A: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss288205618 NC_000002.10:113634290:A: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3728757088, ss3827157907, ss5153265638 NC_000002.11:113917819:A: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
NC_000002.11:113917820:A: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4048526431, ss5249547077, ss5449438508, ss5683212227, ss5931869861 NC_000002.12:113160242:A: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3704645942 NC_000002.12:113160244:A: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss41590441 NT_022135.16:3666482:A: NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4048526428, ss5249547080, ss5683212230 NC_000002.12:113160242::A NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4048526429 NC_000002.12:113160242::AA NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4048526430 NC_000002.12:113160242::AAA NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
4164380341 NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000002.12:113160242:AAAAAAAAAAA…

NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(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 rs34423406

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