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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.

rs34682748

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:136930981-136930992 (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)4 / delTTT / delTT / delT / …

del(T)4 / delTTT / delTT / delT / dupT / dupTT

Variation Type
Indel Insertion and Deletion
Frequency
(T)12=0.318112 (84201/264690, TOPMED)
(T)12=0.4146 (3284/7920, ALFA)
(T)12=0.2953 (1479/5008, 1000G) (+ 4 more)
(T)12=0.2979 (1148/3854, ALSPAC)
(T)12=0.3045 (1129/3708, TWINSUK)
(T)12=0.262 (157/600, NorthernSweden)
(T)12=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NCK1 : 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 7920 TTTTTTTTTTTT=0.4146 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0005, TTTTTTTTTTT=0.5848, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000 0.235592 0.40546 0.358948 32
European Sub 7274 TTTTTTTTTTTT=0.3742 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0005, TTTTTTTTTTT=0.6252, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000 0.182494 0.433251 0.384255 32
African Sub 484 TTTTTTTTTTTT=0.893 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.107, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000 0.85124 0.066116 0.082645 32
African Others Sub 20 TTTTTTTTTTTT=0.75 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.25, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00 0.7 0.2 0.1 3
African American Sub 464 TTTTTTTTTTTT=0.899 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.101, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000 0.857759 0.060345 0.081897 32
Asian Sub 4 TTTTTTTTTTTT=0.5 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.5, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0 0.5 0.5 0.0 1
East Asian Sub 2 TTTTTTTTTTTT=1.0 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TTTTTTTTTTTT=0.0 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=1.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0 0.0 1.0 0.0 N/A
Latin American 1 Sub 22 TTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 40 TTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 8 TTTTTTTTTTTT=0.8 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.2, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0 0.75 0.25 0.0 3
Other Sub 88 TTTTTTTTTTTT=0.68 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.32, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00 0.636364 0.272727 0.090909 15


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
TopMed Global Study-wide 264690 (T)12=0.318112 delT=0.681888
Allele Frequency Aggregator Total Global 7920 (T)12=0.4146 del(T)4=0.0000, delTTT=0.0000, delTT=0.0005, delT=0.5848, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator European Sub 7274 (T)12=0.3742 del(T)4=0.0000, delTTT=0.0000, delTT=0.0005, delT=0.6252, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator African Sub 484 (T)12=0.893 del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.107, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator Other Sub 88 (T)12=0.68 del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.32, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator Latin American 2 Sub 40 (T)12=1.00 del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator Latin American 1 Sub 22 (T)12=1.00 del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator South Asian Sub 8 (T)12=0.8 del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.2, dupT=0.0, dupTT=0.0
Allele Frequency Aggregator Asian Sub 4 (T)12=0.5 del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.5, dupT=0.0, dupTT=0.0
1000Genomes Global Study-wide 5008 (T)12=0.2953 delT=0.7047
1000Genomes African Sub 1322 (T)12=0.4281 delT=0.5719
1000Genomes East Asian Sub 1008 (T)12=0.1528 delT=0.8472
1000Genomes Europe Sub 1006 (T)12=0.3419 delT=0.6581
1000Genomes South Asian Sub 978 (T)12=0.257 delT=0.743
1000Genomes American Sub 694 (T)12=0.236 delT=0.764
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (T)12=0.2979 delT=0.7021
UK 10K study - Twins TWIN COHORT Study-wide 3708 (T)12=0.3045 delT=0.6955
Northern Sweden ACPOP Study-wide 600 (T)12=0.262 delT=0.738
The Danish reference pan genome Danish Study-wide 40 (T)12=0.42 delT=0.57
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 3 NC_000003.12:g.136930989_136930992del
GRCh38.p14 chr 3 NC_000003.12:g.136930990_136930992del
GRCh38.p14 chr 3 NC_000003.12:g.136930991_136930992del
GRCh38.p14 chr 3 NC_000003.12:g.136930992del
GRCh38.p14 chr 3 NC_000003.12:g.136930992dup
GRCh38.p14 chr 3 NC_000003.12:g.136930991_136930992dup
GRCh37.p13 chr 3 NC_000003.11:g.136649831_136649834del
GRCh37.p13 chr 3 NC_000003.11:g.136649832_136649834del
GRCh37.p13 chr 3 NC_000003.11:g.136649833_136649834del
GRCh37.p13 chr 3 NC_000003.11:g.136649834del
GRCh37.p13 chr 3 NC_000003.11:g.136649834dup
GRCh37.p13 chr 3 NC_000003.11:g.136649833_136649834dup
Gene: NCK1, NCK adaptor protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NCK1 transcript variant 2 NM_001190796.3:c.34+395_3…

NM_001190796.3:c.34+395_34+398del

N/A Intron Variant
NCK1 transcript variant 3 NM_001291999.2:c.226+2762…

NM_001291999.2:c.226+2762_226+2765del

N/A Intron Variant
NCK1 transcript variant 1 NM_006153.6:c.226+2762_22…

NM_006153.6:c.226+2762_226+2765del

N/A Intron Variant
NCK1 transcript variant X1 XM_024453538.2:c.226+2762…

XM_024453538.2:c.226+2762_226+2765del

N/A Intron Variant
NCK1 transcript variant X2 XM_047448189.1:c.226+2762…

XM_047448189.1:c.226+2762_226+2765del

N/A Intron Variant
NCK1 transcript variant X3 XM_047448190.1:c.226+2762…

XM_047448190.1:c.226+2762_226+2765del

N/A Intron Variant
NCK1 transcript variant X4 XM_047448191.1:c.226+2762…

XM_047448191.1:c.226+2762_226+2765del

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)12= del(T)4 delTTT delTT delT dupT dupTT
GRCh38.p14 chr 3 NC_000003.12:g.136930981_136930992= NC_000003.12:g.136930989_136930992del NC_000003.12:g.136930990_136930992del NC_000003.12:g.136930991_136930992del NC_000003.12:g.136930992del NC_000003.12:g.136930992dup NC_000003.12:g.136930991_136930992dup
GRCh37.p13 chr 3 NC_000003.11:g.136649823_136649834= NC_000003.11:g.136649831_136649834del NC_000003.11:g.136649832_136649834del NC_000003.11:g.136649833_136649834del NC_000003.11:g.136649834del NC_000003.11:g.136649834dup NC_000003.11:g.136649833_136649834dup
NCK1 transcript variant 2 NM_001190796.1:c.34+387= NM_001190796.1:c.34+395_34+398del NM_001190796.1:c.34+396_34+398del NM_001190796.1:c.34+397_34+398del NM_001190796.1:c.34+398del NM_001190796.1:c.34+398dup NM_001190796.1:c.34+397_34+398dup
NCK1 transcript variant 2 NM_001190796.3:c.34+387= NM_001190796.3:c.34+395_34+398del NM_001190796.3:c.34+396_34+398del NM_001190796.3:c.34+397_34+398del NM_001190796.3:c.34+398del NM_001190796.3:c.34+398dup NM_001190796.3:c.34+397_34+398dup
NCK1 transcript variant 3 NM_001291999.2:c.226+2754= NM_001291999.2:c.226+2762_226+2765del NM_001291999.2:c.226+2763_226+2765del NM_001291999.2:c.226+2764_226+2765del NM_001291999.2:c.226+2765del NM_001291999.2:c.226+2765dup NM_001291999.2:c.226+2764_226+2765dup
NCK1 transcript variant 1 NM_006153.4:c.226+2754= NM_006153.4:c.226+2762_226+2765del NM_006153.4:c.226+2763_226+2765del NM_006153.4:c.226+2764_226+2765del NM_006153.4:c.226+2765del NM_006153.4:c.226+2765dup NM_006153.4:c.226+2764_226+2765dup
NCK1 transcript variant 1 NM_006153.6:c.226+2754= NM_006153.6:c.226+2762_226+2765del NM_006153.6:c.226+2763_226+2765del NM_006153.6:c.226+2764_226+2765del NM_006153.6:c.226+2765del NM_006153.6:c.226+2765dup NM_006153.6:c.226+2764_226+2765dup
NCK1 transcript variant X1 XM_005247498.1:c.226+2754= XM_005247498.1:c.226+2762_226+2765del XM_005247498.1:c.226+2763_226+2765del XM_005247498.1:c.226+2764_226+2765del XM_005247498.1:c.226+2765del XM_005247498.1:c.226+2765dup XM_005247498.1:c.226+2764_226+2765dup
NCK1 transcript variant X1 XM_024453538.2:c.226+2754= XM_024453538.2:c.226+2762_226+2765del XM_024453538.2:c.226+2763_226+2765del XM_024453538.2:c.226+2764_226+2765del XM_024453538.2:c.226+2765del XM_024453538.2:c.226+2765dup XM_024453538.2:c.226+2764_226+2765dup
NCK1 transcript variant X2 XM_047448189.1:c.226+2754= XM_047448189.1:c.226+2762_226+2765del XM_047448189.1:c.226+2763_226+2765del XM_047448189.1:c.226+2764_226+2765del XM_047448189.1:c.226+2765del XM_047448189.1:c.226+2765dup XM_047448189.1:c.226+2764_226+2765dup
NCK1 transcript variant X3 XM_047448190.1:c.226+2754= XM_047448190.1:c.226+2762_226+2765del XM_047448190.1:c.226+2763_226+2765del XM_047448190.1:c.226+2764_226+2765del XM_047448190.1:c.226+2765del XM_047448190.1:c.226+2765dup XM_047448190.1:c.226+2764_226+2765dup
NCK1 transcript variant X4 XM_047448191.1:c.226+2754= XM_047448191.1:c.226+2762_226+2765del XM_047448191.1:c.226+2763_226+2765del XM_047448191.1:c.226+2764_226+2765del XM_047448191.1:c.226+2765del XM_047448191.1:c.226+2765dup XM_047448191.1:c.226+2764_226+2765dup
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#.

59 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42057087 Dec 03, 2013 (138)
2 HGSV ss77834554 Sep 08, 2015 (146)
3 HUMANGENOME_JCVI ss99172827 Feb 06, 2009 (130)
4 BCMHGSC_JDW ss103676492 Dec 06, 2013 (142)
5 GMI ss287734435 May 09, 2011 (137)
6 GMI ss288421352 May 04, 2012 (137)
7 PJP ss295127604 May 09, 2011 (137)
8 PJP ss295127605 May 09, 2011 (135)
9 PJP ss295127606 May 09, 2011 (134)
10 SSMP ss663358847 Apr 01, 2015 (144)
11 BILGI_BIOE ss666227803 Apr 25, 2013 (138)
12 1000GENOMES ss1371027845 Aug 21, 2014 (142)
13 DDI ss1536374165 Apr 01, 2015 (144)
14 EVA_GENOME_DK ss1576043216 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1703839932 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1703840203 Apr 01, 2015 (144)
17 JJLAB ss2030546120 Sep 14, 2016 (149)
18 SYSTEMSBIOZJU ss2625393322 Nov 08, 2017 (151)
19 SWEGEN ss2993263570 Nov 08, 2017 (151)
20 MCHAISSO ss3064069120 Nov 08, 2017 (151)
21 MCHAISSO ss3064932149 Nov 08, 2017 (151)
22 MCHAISSO ss3065907007 Nov 08, 2017 (151)
23 BEROUKHIMLAB ss3644136559 Oct 12, 2018 (152)
24 BIOINF_KMB_FNS_UNIBA ss3645745316 Oct 12, 2018 (152)
25 URBANLAB ss3647535805 Oct 12, 2018 (152)
26 EVA_DECODE ss3710369226 Jul 13, 2019 (153)
27 EVA_DECODE ss3710369227 Jul 13, 2019 (153)
28 ACPOP ss3730385799 Jul 13, 2019 (153)
29 PACBIO ss3784475202 Jul 13, 2019 (153)
30 PACBIO ss3789967291 Jul 13, 2019 (153)
31 PACBIO ss3794841885 Jul 13, 2019 (153)
32 KHV_HUMAN_GENOMES ss3803875834 Jul 13, 2019 (153)
33 EVA ss3828095049 Apr 25, 2020 (154)
34 EVA ss3837479618 Apr 25, 2020 (154)
35 EVA ss3842910440 Apr 25, 2020 (154)
36 KOGIC ss3952492390 Apr 25, 2020 (154)
37 KOGIC ss3952492391 Apr 25, 2020 (154)
38 GNOMAD ss4081512056 Apr 26, 2021 (155)
39 GNOMAD ss4081512057 Apr 26, 2021 (155)
40 GNOMAD ss4081512058 Apr 26, 2021 (155)
41 GNOMAD ss4081512059 Apr 26, 2021 (155)
42 GNOMAD ss4081512060 Apr 26, 2021 (155)
43 GNOMAD ss4081512061 Apr 26, 2021 (155)
44 TOPMED ss4585046615 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5161772850 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5161772851 Apr 26, 2021 (155)
47 1000G_HIGH_COVERAGE ss5256169356 Oct 12, 2022 (156)
48 1000G_HIGH_COVERAGE ss5256169357 Oct 12, 2022 (156)
49 HUGCELL_USP ss5455293682 Oct 12, 2022 (156)
50 HUGCELL_USP ss5455293683 Oct 12, 2022 (156)
51 EVA ss5507217326 Oct 12, 2022 (156)
52 SANFORD_IMAGENETICS ss5633270452 Oct 12, 2022 (156)
53 TOMMO_GENOMICS ss5694707104 Oct 12, 2022 (156)
54 TOMMO_GENOMICS ss5694707105 Oct 12, 2022 (156)
55 YY_MCH ss5804282063 Oct 12, 2022 (156)
56 EVA ss5826535895 Oct 12, 2022 (156)
57 EVA ss5853855131 Oct 12, 2022 (156)
58 EVA ss5871165455 Oct 12, 2022 (156)
59 EVA ss5961623081 Oct 12, 2022 (156)
60 1000Genomes NC_000003.11 - 136649823 Oct 12, 2018 (152)
61 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 136649823 Oct 12, 2018 (152)
62 The Danish reference pan genome NC_000003.11 - 136649823 Apr 25, 2020 (154)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 124993592 (NC_000003.12:136930980::T 31/137486)
Row 124993593 (NC_000003.12:136930980::TT 3/137500)
Row 124993594 (NC_000003.12:136930980:T: 92966/137350)...

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

Submission ignored due to conflicting rows:
Row 124993592 (NC_000003.12:136930980::T 31/137486)
Row 124993593 (NC_000003.12:136930980::TT 3/137500)
Row 124993594 (NC_000003.12:136930980:T: 92966/137350)...

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

Submission ignored due to conflicting rows:
Row 124993592 (NC_000003.12:136930980::T 31/137486)
Row 124993593 (NC_000003.12:136930980::TT 3/137500)
Row 124993594 (NC_000003.12:136930980:T: 92966/137350)...

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

Submission ignored due to conflicting rows:
Row 124993592 (NC_000003.12:136930980::T 31/137486)
Row 124993593 (NC_000003.12:136930980::TT 3/137500)
Row 124993594 (NC_000003.12:136930980:T: 92966/137350)...

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

Submission ignored due to conflicting rows:
Row 124993592 (NC_000003.12:136930980::T 31/137486)
Row 124993593 (NC_000003.12:136930980::TT 3/137500)
Row 124993594 (NC_000003.12:136930980:T: 92966/137350)...

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

Submission ignored due to conflicting rows:
Row 124993592 (NC_000003.12:136930980::T 31/137486)
Row 124993593 (NC_000003.12:136930980::TT 3/137500)
Row 124993594 (NC_000003.12:136930980:T: 92966/137350)...

- Apr 26, 2021 (155)
69 Korean Genome Project

Submission ignored due to conflicting rows:
Row 8870391 (NC_000003.12:136930981:T: 1568/1832)
Row 8870392 (NC_000003.12:136930980:TT: 11/1832)

- Apr 25, 2020 (154)
70 Korean Genome Project

Submission ignored due to conflicting rows:
Row 8870391 (NC_000003.12:136930981:T: 1568/1832)
Row 8870392 (NC_000003.12:136930980:TT: 11/1832)

- Apr 25, 2020 (154)
71 Northern Sweden NC_000003.11 - 136649823 Jul 13, 2019 (153)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 19742157 (NC_000003.11:136649822:T: 14521/16760)
Row 19742158 (NC_000003.11:136649822:TT: 157/16760)

- Apr 26, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 19742157 (NC_000003.11:136649822:T: 14521/16760)
Row 19742158 (NC_000003.11:136649822:TT: 157/16760)

- Apr 26, 2021 (155)
74 14KJPN

Submission ignored due to conflicting rows:
Row 28544208 (NC_000003.12:136930980:T: 24502/28258)
Row 28544209 (NC_000003.12:136930980:TT: 274/28258)

- Oct 12, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 28544208 (NC_000003.12:136930980:T: 24502/28258)
Row 28544209 (NC_000003.12:136930980:TT: 274/28258)

- Oct 12, 2022 (156)
76 TopMed NC_000003.12 - 136930981 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000003.11 - 136649823 Oct 12, 2018 (152)
78 ALFA NC_000003.12 - 136930981 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)
rs144515186 Sep 17, 2011 (135)
rs398062833 Aug 21, 2014 (142)
rs143756687 May 11, 2012 (137)
rs371655038 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4081512061 NC_000003.12:136930980:TTTT: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTT

(self)
12139722367 NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTT

NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTT

(self)
ss4081512060 NC_000003.12:136930980:TTT: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTT

(self)
12139722367 NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTT

NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTT

(self)
ss295127605 NC_000003.10:138132522:TT: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTT

(self)
ss5161772851 NC_000003.11:136649822:TT: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTT

(self)
ss3710369226, ss3952492391, ss4081512059, ss5256169357, ss5455293683, ss5694707105 NC_000003.12:136930980:TT: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTT

(self)
12139722367 NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTT

NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTT

(self)
ss103676492 NT_005612.16:43144978:TT: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTT

(self)
ss77834554 NC_000003.9:138132531:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss288421352, ss295127604 NC_000003.10:138132512:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss295127606 NC_000003.10:138132523:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
17589825, 9796017, 858448, 3670664, 9796017, ss663358847, ss666227803, ss1371027845, ss1536374165, ss1576043216, ss1703839932, ss1703840203, ss2030546120, ss2625393322, ss2993263570, ss3644136559, ss3730385799, ss3784475202, ss3789967291, ss3794841885, ss3828095049, ss3837479618, ss5161772850, ss5633270452, ss5826535895, ss5961623081 NC_000003.11:136649822:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
422424170, ss3064069120, ss3064932149, ss3065907007, ss3645745316, ss3647535805, ss3803875834, ss3842910440, ss4081512058, ss4585046615, ss5256169356, ss5455293682, ss5694707104, ss5804282063, ss5853855131, ss5871165455 NC_000003.12:136930980:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
12139722367 NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss3710369227, ss3952492390 NC_000003.12:136930981:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss287734435 NT_005612.16:43144968:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss42057087, ss99172827 NT_005612.16:43144979:T: NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss5507217326 NC_000003.11:136649822::T NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTT

ss4081512056 NC_000003.12:136930980::T NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
12139722367 NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4081512057 NC_000003.12:136930980::TT NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
12139722367 NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000003.12:136930980:TTTTTTTTTTT…

NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTTT

(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 rs34682748

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