Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs34937059

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:120863806-120863821 (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)5 / del(T)4 / delTTT / delTT…

del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / insTTGTAGC(T)27 / ins(T)5GC(T)27

Variation Type
Indel Insertion and Deletion
Frequency
delTT=0.3631 (1620/4462, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SPPL3 : 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 4462 TTTTTTTTTTTTTTTT=0.1842 TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTT=0.3631, TTTTTTTTTTTTTTT=0.4525, TTTTTTTTTTTTTTTTT=0.0000 0.22708 0.361263 0.411658 23
European Sub 4274 TTTTTTTTTTTTTTTT=0.1500 TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTT=0.3788, TTTTTTTTTTTTTTT=0.4710, TTTTTTTTTTTTTTTTT=0.0000 0.227494 0.360706 0.4118 23
African Sub 174 TTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000 0 0 0 N/A
African Others Sub 10 TTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0 0 0 0 N/A
African American Sub 164 TTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000 0 0 0 N/A
Asian Sub 0 TTTTTTTTTTTTTTTT=0 TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0 0 0 0 N/A
East Asian Sub 0 TTTTTTTTTTTTTTTT=0 TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTT=0 TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 0 TTTTTTTTTTTTTTTT=0 TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 2 Sub 2 TTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0 0 0 0 N/A
South Asian Sub 0 TTTTTTTTTTTTTTTT=0 TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Sub 12 TTTTTTTTTTTTTTTT=0.42 TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.08, TTTTTTTTTTTTTTT=0.50, TTTTTTTTTTTTTTTTT=0.00 0.0 0.666667 0.333333 0


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 4462 (T)16=0.1842 del(T)5=0.0000, delTTT=0.0002, delTT=0.3631, delT=0.4525, dupT=0.0000
Allele Frequency Aggregator European Sub 4274 (T)16=0.1500 del(T)5=0.0000, delTTT=0.0002, delTT=0.3788, delT=0.4710, dupT=0.0000
Allele Frequency Aggregator African Sub 174 (T)16=1.000 del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator Other Sub 12 (T)16=0.42 del(T)5=0.00, delTTT=0.00, delTT=0.08, delT=0.50, dupT=0.00
Allele Frequency Aggregator Latin American 2 Sub 2 (T)16=1.0 del(T)5=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (T)16=0 del(T)5=0, delTTT=0, delTT=0, delT=0, dupT=0
Allele Frequency Aggregator South Asian Sub 0 (T)16=0 del(T)5=0, delTTT=0, delTT=0, delT=0, dupT=0
Allele Frequency Aggregator Asian Sub 0 (T)16=0 del(T)5=0, delTTT=0, delTT=0, delT=0, dupT=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 12 NC_000012.12:g.120863817_120863821del
GRCh38.p14 chr 12 NC_000012.12:g.120863818_120863821del
GRCh38.p14 chr 12 NC_000012.12:g.120863819_120863821del
GRCh38.p14 chr 12 NC_000012.12:g.120863820_120863821del
GRCh38.p14 chr 12 NC_000012.12:g.120863821del
GRCh38.p14 chr 12 NC_000012.12:g.120863821dup
GRCh38.p14 chr 12 NC_000012.12:g.120863820_120863821dup
GRCh38.p14 chr 12 NC_000012.12:g.120863806_120863821T[18]GTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 12 NC_000012.12:g.120863806_120863821T[21]GCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 12 NC_000012.11:g.121301620_121301624del
GRCh37.p13 chr 12 NC_000012.11:g.121301621_121301624del
GRCh37.p13 chr 12 NC_000012.11:g.121301622_121301624del
GRCh37.p13 chr 12 NC_000012.11:g.121301623_121301624del
GRCh37.p13 chr 12 NC_000012.11:g.121301624del
GRCh37.p13 chr 12 NC_000012.11:g.121301624dup
GRCh37.p13 chr 12 NC_000012.11:g.121301623_121301624dup
GRCh37.p13 chr 12 NC_000012.11:g.121301609_121301624T[18]GTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 12 NC_000012.11:g.121301609_121301624T[21]GCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
Gene: SPPL3, signal peptide peptidase like 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SPPL3 transcript NM_139015.5:c.23+40035_23…

NM_139015.5:c.23+40035_23+40039del

N/A Intron Variant
SPPL3 transcript variant X1 XM_011537925.3:c.23+2709_…

XM_011537925.3:c.23+2709_23+2713del

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 (T)16= del(T)5 del(T)4 delTTT delTT delT dupT dupTT insTTGTAGC(T)27 ins(T)5GC(T)27
GRCh38.p14 chr 12 NC_000012.12:g.120863806_120863821= NC_000012.12:g.120863817_120863821del NC_000012.12:g.120863818_120863821del NC_000012.12:g.120863819_120863821del NC_000012.12:g.120863820_120863821del NC_000012.12:g.120863821del NC_000012.12:g.120863821dup NC_000012.12:g.120863820_120863821dup NC_000012.12:g.120863806_120863821T[18]GTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000012.12:g.120863806_120863821T[21]GCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 12 NC_000012.11:g.121301609_121301624= NC_000012.11:g.121301620_121301624del NC_000012.11:g.121301621_121301624del NC_000012.11:g.121301622_121301624del NC_000012.11:g.121301623_121301624del NC_000012.11:g.121301624del NC_000012.11:g.121301624dup NC_000012.11:g.121301623_121301624dup NC_000012.11:g.121301609_121301624T[18]GTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000012.11:g.121301609_121301624T[21]GCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
SPPL3 transcript NM_139015.4:c.23+40039= NM_139015.4:c.23+40035_23+40039del NM_139015.4:c.23+40036_23+40039del NM_139015.4:c.23+40037_23+40039del NM_139015.4:c.23+40038_23+40039del NM_139015.4:c.23+40039del NM_139015.4:c.23+40039dup NM_139015.4:c.23+40038_23+40039dup NM_139015.4:c.23+40039_23+40040insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTACAA NM_139015.4:c.23+40039_23+40040insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAA
SPPL3 transcript NM_139015.5:c.23+40039= NM_139015.5:c.23+40035_23+40039del NM_139015.5:c.23+40036_23+40039del NM_139015.5:c.23+40037_23+40039del NM_139015.5:c.23+40038_23+40039del NM_139015.5:c.23+40039del NM_139015.5:c.23+40039dup NM_139015.5:c.23+40038_23+40039dup NM_139015.5:c.23+40039_23+40040insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTACAA NM_139015.5:c.23+40039_23+40040insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAA
SPPL3 transcript variant X1 XM_005253841.1:c.-89+38072= XM_005253841.1:c.-89+38068_-89+38072del XM_005253841.1:c.-89+38069_-89+38072del XM_005253841.1:c.-89+38070_-89+38072del XM_005253841.1:c.-89+38071_-89+38072del XM_005253841.1:c.-89+38072del XM_005253841.1:c.-89+38072dup XM_005253841.1:c.-89+38071_-89+38072dup XM_005253841.1:c.-89+38072_-89+38073insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTACAA XM_005253841.1:c.-89+38072_-89+38073insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAA
SPPL3 transcript variant X1 XM_011537925.3:c.23+2713= XM_011537925.3:c.23+2709_23+2713del XM_011537925.3:c.23+2710_23+2713del XM_011537925.3:c.23+2711_23+2713del XM_011537925.3:c.23+2712_23+2713del XM_011537925.3:c.23+2713del XM_011537925.3:c.23+2713dup XM_011537925.3:c.23+2712_23+2713dup XM_011537925.3:c.23+2713_23+2714insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTACAA XM_011537925.3:c.23+2713_23+2714insAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAA
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#.

56 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40192813 Mar 15, 2016 (147)
2 HUMANGENOME_JCVI ss95609407 Mar 15, 2016 (147)
3 BUSHMAN ss193301736 Jul 04, 2010 (132)
4 GMI ss289156341 May 04, 2012 (137)
5 GMI ss289156342 May 04, 2012 (137)
6 PJP ss294778304 May 09, 2011 (137)
7 PJP ss294778305 May 09, 2011 (134)
8 PJP ss294778306 May 09, 2011 (137)
9 DDI ss1536745316 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1707652636 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1707652729 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710584037 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1710584038 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1710584039 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1710584040 Apr 01, 2015 (144)
16 HAMMER_LAB ss1807451238 Sep 08, 2015 (146)
17 SYSTEMSBIOZJU ss2628207428 Nov 08, 2017 (151)
18 SWEGEN ss3010463059 Nov 08, 2017 (151)
19 MCHAISSO ss3064578930 Nov 08, 2017 (151)
20 EVA_DECODE ss3694609579 Jul 13, 2019 (153)
21 EVA_DECODE ss3694609580 Jul 13, 2019 (153)
22 EVA_DECODE ss3694609581 Jul 13, 2019 (153)
23 EVA_DECODE ss3694609582 Jul 13, 2019 (153)
24 ACPOP ss3739443850 Jul 13, 2019 (153)
25 ACPOP ss3739443851 Jul 13, 2019 (153)
26 PACBIO ss3787355168 Jul 13, 2019 (153)
27 PACBIO ss3787355169 Jul 13, 2019 (153)
28 PACBIO ss3792434049 Jul 13, 2019 (153)
29 PACBIO ss3792434050 Jul 13, 2019 (153)
30 PACBIO ss3797317217 Jul 13, 2019 (153)
31 PACBIO ss3797317218 Jul 13, 2019 (153)
32 EVA ss3833362369 Apr 27, 2020 (154)
33 GNOMAD ss4260234545 Apr 26, 2021 (155)
34 GNOMAD ss4260234546 Apr 26, 2021 (155)
35 GNOMAD ss4260234547 Apr 26, 2021 (155)
36 GNOMAD ss4260234548 Apr 26, 2021 (155)
37 GNOMAD ss4260234549 Apr 26, 2021 (155)
38 GNOMAD ss4260234550 Apr 26, 2021 (155)
39 GNOMAD ss4260234551 Apr 26, 2021 (155)
40 GNOMAD ss4260234552 Apr 26, 2021 (155)
41 GNOMAD ss4260234553 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5208491277 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5208491278 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5208491279 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5292481364 Oct 16, 2022 (156)
46 1000G_HIGH_COVERAGE ss5292481365 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5292481366 Oct 16, 2022 (156)
48 HUGCELL_USP ss5487061588 Oct 16, 2022 (156)
49 HUGCELL_USP ss5487061589 Oct 16, 2022 (156)
50 HUGCELL_USP ss5487061590 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5758914120 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5758914121 Oct 16, 2022 (156)
53 TOMMO_GENOMICS ss5758914122 Oct 16, 2022 (156)
54 EVA ss5838610213 Oct 16, 2022 (156)
55 EVA ss5838610214 Oct 16, 2022 (156)
56 EVA ss5838610215 Oct 16, 2022 (156)
57 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 33182710 (NC_000012.11:121301609:T: 1684/3854)
Row 33182712 (NC_000012.11:121301608:TTT: 202/3854)

- Oct 12, 2018 (152)
58 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 33182710 (NC_000012.11:121301609:T: 1684/3854)
Row 33182712 (NC_000012.11:121301608:TTT: 202/3854)

- Oct 12, 2018 (152)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

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

Submission ignored due to conflicting rows:
Row 421365099 (NC_000012.12:120863805::T 22/130524)
Row 421365100 (NC_000012.12:120863805::TT 1/130524)
Row 421365101 (NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT 1/130524)...

- Apr 26, 2021 (155)
68 Northern Sweden

Submission ignored due to conflicting rows:
Row 12728715 (NC_000012.11:121301608:TT: 204/566)
Row 12728716 (NC_000012.11:121301608:T: 244/566)

- Jul 13, 2019 (153)
69 Northern Sweden

Submission ignored due to conflicting rows:
Row 12728715 (NC_000012.11:121301608:TT: 204/566)
Row 12728716 (NC_000012.11:121301608:T: 244/566)

- Jul 13, 2019 (153)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 66460584 (NC_000012.11:121301608:T: 12956/16750)
Row 66460585 (NC_000012.11:121301608:TT: 3587/16750)
Row 66460586 (NC_000012.11:121301608:TTT: 6/16750)

- Apr 26, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 66460584 (NC_000012.11:121301608:T: 12956/16750)
Row 66460585 (NC_000012.11:121301608:TT: 3587/16750)
Row 66460586 (NC_000012.11:121301608:TTT: 6/16750)

- Apr 26, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 66460584 (NC_000012.11:121301608:T: 12956/16750)
Row 66460585 (NC_000012.11:121301608:TT: 3587/16750)
Row 66460586 (NC_000012.11:121301608:TTT: 6/16750)

- Apr 26, 2021 (155)
73 14KJPN

Submission ignored due to conflicting rows:
Row 92751224 (NC_000012.12:120863805:T: 21700/28170)
Row 92751225 (NC_000012.12:120863805:TT: 6051/28170)
Row 92751226 (NC_000012.12:120863805:TTT: 17/28170)

- Oct 16, 2022 (156)
74 14KJPN

Submission ignored due to conflicting rows:
Row 92751224 (NC_000012.12:120863805:T: 21700/28170)
Row 92751225 (NC_000012.12:120863805:TT: 6051/28170)
Row 92751226 (NC_000012.12:120863805:TTT: 17/28170)

- Oct 16, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 92751224 (NC_000012.12:120863805:T: 21700/28170)
Row 92751225 (NC_000012.12:120863805:TT: 6051/28170)
Row 92751226 (NC_000012.12:120863805:TTT: 17/28170)

- Oct 16, 2022 (156)
76 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 33182710 (NC_000012.11:121301609:T: 1654/3708)
Row 33182712 (NC_000012.11:121301608:TTT: 188/3708)

- Oct 12, 2018 (152)
77 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 33182710 (NC_000012.11:121301609:TT: 1654/3708)
Row 33182711 (NC_000012.11:121301610:T: 1823/3708)
Row 33182712 (NC_000012.11:121301608:TTT: 188/3708)

- Apr 27, 2020 (154)
78 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 33182710 (NC_000012.11:121301609:T: 1654/3708)
Row 33182712 (NC_000012.11:121301608:TTT: 188/3708)

- Oct 12, 2018 (152)
79 ALFA NC_000012.12 - 120863806 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)
rs148086865 May 11, 2012 (137)
rs145055429 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4260234553 NC_000012.12:120863805:TTTTT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
7138104268 NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss3694609579, ss4260234552 NC_000012.12:120863805:TTTT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss1707652636, ss1707652729, ss3010463059, ss5208491279, ss5838610214 NC_000012.11:121301608:TTT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4260234551, ss5292481366, ss5758914122 NC_000012.12:120863805:TTT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
7138104268 NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss3694609580 NC_000012.12:120863806:TTT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss289156342, ss294778304 NC_000012.10:119785991:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss294778305 NC_000012.10:119786005:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss1536745316, ss3739443850, ss3787355168, ss3792434049, ss3797317217, ss5208491278, ss5838610213 NC_000012.11:121301608:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss1710584037, ss1710584038 NC_000012.11:121301609:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3064578930, ss4260234550, ss5292481364, ss5487061588, ss5758914121 NC_000012.12:120863805:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
7138104268 NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3694609581 NC_000012.12:120863807:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss40192813 NT_009775.17:11878138:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss95609407 NT_009775.17:11878152:TT: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss289156341 NC_000012.10:119785991:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss294778306 NC_000012.10:119786006:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss1807451238, ss3739443851, ss3787355169, ss3792434050, ss3797317218, ss3833362369, ss5208491277, ss5838610215 NC_000012.11:121301608:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss2628207428 NC_000012.11:121301609:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss1710584039, ss1710584040 NC_000012.11:121301610:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4260234549, ss5292481365, ss5487061589, ss5758914120 NC_000012.12:120863805:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
7138104268 NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3694609582 NC_000012.12:120863808:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss40192813 NT_009775.17:11878138:TT:T NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss193301736 NT_029419.13:83628553:T: NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4260234545, ss5487061590 NC_000012.12:120863805::T NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
7138104268 NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4260234546 NC_000012.12:120863805::TT NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4260234547 NC_000012.12:120863805::TTTTTTTTTT…

NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTT

NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4260234548 NC_000012.12:120863805::TTTTTTTTTT…

NC_000012.12:120863805::TTTTTTTTTTTTTTTTTTTTTGCTTTTTTTTTTT

NC_000012.12:120863805:TTTTTTTTTTT…

NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs34937059

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