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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.

rs11369038

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:109433001-109433018 (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)8 / del(A)5 / del(A)4 / delA…

del(A)8 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)9

Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.2040 (1367/6702, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SEC24B-AS1 : Intron Variant
SEC24B : 2KB Upstream 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 6702 AAAAAAAAAAAAAAAAAA=0.7926 AAAAAAAAAA=0.0001, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.2040, AAAAAAAAAAAAAAAAAAAA=0.0024, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000
European Sub 6004 AAAAAAAAAAAAAAAAAA=0.7690 AAAAAAAAAA=0.0002, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0010, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.2272, AAAAAAAAAAAAAAAAAAAA=0.0027, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000
African Sub 352 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000
African Others Sub 14 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00
African American Sub 338 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000
Asian Sub 66 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00
East Asian Sub 48 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00
Other Asian Sub 18 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00
Latin American 1 Sub 24 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00
Latin American 2 Sub 140 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000
South Asian Sub 10 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0
Other Sub 106 AAAAAAAAAAAAAAAAAA=0.972 AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.028, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000


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 6702 (A)18=0.7926 del(A)8=0.0001, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0009, delA=0.0000, dupA=0.2040, dupAA=0.0024, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 6004 (A)18=0.7690 del(A)8=0.0002, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0010, delA=0.0000, dupA=0.2272, dupAA=0.0027, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator African Sub 352 (A)18=1.000 del(A)8=0.000, del(A)5=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, dup(A)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 140 (A)18=1.000 del(A)8=0.000, del(A)5=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, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 106 (A)18=0.972 del(A)8=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.028, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Asian Sub 66 (A)18=1.00 del(A)8=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 24 (A)18=1.00 del(A)8=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 10 (A)18=1.0 del(A)8=0.0, del(A)5=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, dup(A)4=0.0
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 4 NC_000004.12:g.109433011_109433018del
GRCh38.p14 chr 4 NC_000004.12:g.109433014_109433018del
GRCh38.p14 chr 4 NC_000004.12:g.109433015_109433018del
GRCh38.p14 chr 4 NC_000004.12:g.109433016_109433018del
GRCh38.p14 chr 4 NC_000004.12:g.109433017_109433018del
GRCh38.p14 chr 4 NC_000004.12:g.109433018del
GRCh38.p14 chr 4 NC_000004.12:g.109433018dup
GRCh38.p14 chr 4 NC_000004.12:g.109433017_109433018dup
GRCh38.p14 chr 4 NC_000004.12:g.109433016_109433018dup
GRCh38.p14 chr 4 NC_000004.12:g.109433015_109433018dup
GRCh38.p14 chr 4 NC_000004.12:g.109433014_109433018dup
GRCh38.p14 chr 4 NC_000004.12:g.109433013_109433018dup
GRCh38.p14 chr 4 NC_000004.12:g.109433010_109433018dup
GRCh37.p13 chr 4 NC_000004.11:g.110354167_110354174del
GRCh37.p13 chr 4 NC_000004.11:g.110354170_110354174del
GRCh37.p13 chr 4 NC_000004.11:g.110354171_110354174del
GRCh37.p13 chr 4 NC_000004.11:g.110354172_110354174del
GRCh37.p13 chr 4 NC_000004.11:g.110354173_110354174del
GRCh37.p13 chr 4 NC_000004.11:g.110354174del
GRCh37.p13 chr 4 NC_000004.11:g.110354174dup
GRCh37.p13 chr 4 NC_000004.11:g.110354173_110354174dup
GRCh37.p13 chr 4 NC_000004.11:g.110354172_110354174dup
GRCh37.p13 chr 4 NC_000004.11:g.110354171_110354174dup
GRCh37.p13 chr 4 NC_000004.11:g.110354170_110354174dup
GRCh37.p13 chr 4 NC_000004.11:g.110354169_110354174dup
GRCh37.p13 chr 4 NC_000004.11:g.110354166_110354174dup
SEC24B RefSeqGene NG_032166.1:g.4197_4204del
SEC24B RefSeqGene NG_032166.1:g.4200_4204del
SEC24B RefSeqGene NG_032166.1:g.4201_4204del
SEC24B RefSeqGene NG_032166.1:g.4202_4204del
SEC24B RefSeqGene NG_032166.1:g.4203_4204del
SEC24B RefSeqGene NG_032166.1:g.4204del
SEC24B RefSeqGene NG_032166.1:g.4204dup
SEC24B RefSeqGene NG_032166.1:g.4203_4204dup
SEC24B RefSeqGene NG_032166.1:g.4202_4204dup
SEC24B RefSeqGene NG_032166.1:g.4201_4204dup
SEC24B RefSeqGene NG_032166.1:g.4200_4204dup
SEC24B RefSeqGene NG_032166.1:g.4199_4204dup
SEC24B RefSeqGene NG_032166.1:g.4196_4204dup
Gene: SEC24B, SEC24 homolog B, COPII coat complex component (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
SEC24B transcript variant 2 NM_001042734.4:c. N/A Upstream Transcript Variant
SEC24B transcript variant 3 NM_001300813.3:c. N/A Upstream Transcript Variant
SEC24B transcript variant 4 NM_001318085.2:c. N/A Upstream Transcript Variant
SEC24B transcript variant 5 NM_001318086.2:c. N/A Upstream Transcript Variant
SEC24B transcript variant 1 NM_006323.5:c. N/A Upstream Transcript Variant
SEC24B transcript variant X10 XM_017007652.3:c. N/A Upstream Transcript Variant
SEC24B transcript variant X11 XM_047449519.1:c. N/A Upstream Transcript Variant
SEC24B transcript variant X1 XM_011531536.4:c. N/A N/A
SEC24B transcript variant X2 XM_011531537.4:c. N/A N/A
SEC24B transcript variant X14 XM_011531540.4:c. N/A N/A
SEC24B transcript variant X3 XM_047449512.1:c. N/A N/A
SEC24B transcript variant X4 XM_047449513.1:c. N/A N/A
SEC24B transcript variant X5 XM_047449514.1:c. N/A N/A
SEC24B transcript variant X6 XM_047449515.1:c. N/A N/A
SEC24B transcript variant X7 XM_047449516.1:c. N/A N/A
SEC24B transcript variant X8 XM_047449517.1:c. N/A N/A
SEC24B transcript variant X9 XM_047449518.1:c. N/A N/A
SEC24B transcript variant X12 XM_047449520.1:c. N/A N/A
SEC24B transcript variant X13 XM_047449521.1:c. N/A N/A
Gene: SEC24B-AS1, SEC24B antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SEC24B-AS1 transcript NR_039978.1: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)18= del(A)8 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)9
GRCh38.p14 chr 4 NC_000004.12:g.109433001_109433018= NC_000004.12:g.109433011_109433018del NC_000004.12:g.109433014_109433018del NC_000004.12:g.109433015_109433018del NC_000004.12:g.109433016_109433018del NC_000004.12:g.109433017_109433018del NC_000004.12:g.109433018del NC_000004.12:g.109433018dup NC_000004.12:g.109433017_109433018dup NC_000004.12:g.109433016_109433018dup NC_000004.12:g.109433015_109433018dup NC_000004.12:g.109433014_109433018dup NC_000004.12:g.109433013_109433018dup NC_000004.12:g.109433010_109433018dup
GRCh37.p13 chr 4 NC_000004.11:g.110354157_110354174= NC_000004.11:g.110354167_110354174del NC_000004.11:g.110354170_110354174del NC_000004.11:g.110354171_110354174del NC_000004.11:g.110354172_110354174del NC_000004.11:g.110354173_110354174del NC_000004.11:g.110354174del NC_000004.11:g.110354174dup NC_000004.11:g.110354173_110354174dup NC_000004.11:g.110354172_110354174dup NC_000004.11:g.110354171_110354174dup NC_000004.11:g.110354170_110354174dup NC_000004.11:g.110354169_110354174dup NC_000004.11:g.110354166_110354174dup
SEC24B RefSeqGene NG_032166.1:g.4187_4204= NG_032166.1:g.4197_4204del NG_032166.1:g.4200_4204del NG_032166.1:g.4201_4204del NG_032166.1:g.4202_4204del NG_032166.1:g.4203_4204del NG_032166.1:g.4204del NG_032166.1:g.4204dup NG_032166.1:g.4203_4204dup NG_032166.1:g.4202_4204dup NG_032166.1:g.4201_4204dup NG_032166.1:g.4200_4204dup NG_032166.1:g.4199_4204dup NG_032166.1:g.4196_4204dup
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#.

49 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82328373 Dec 03, 2013 (144)
2 HUMANGENOME_JCVI ss95365269 Dec 05, 2013 (144)
3 PJP ss295182002 May 09, 2011 (137)
4 PJP ss295182003 May 09, 2011 (137)
5 EVA_UK10K_ALSPAC ss1704304282 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1704304284 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1704304336 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1704304337 Apr 01, 2015 (144)
9 SWEGEN ss2995322616 Nov 08, 2017 (151)
10 URBANLAB ss3647815589 Oct 12, 2018 (152)
11 EVA_DECODE ss3712790770 Jul 13, 2019 (153)
12 EVA_DECODE ss3712790771 Jul 13, 2019 (153)
13 EVA_DECODE ss3712790772 Jul 13, 2019 (153)
14 EVA_DECODE ss3712790773 Jul 13, 2019 (153)
15 EVA_DECODE ss3712790774 Jul 13, 2019 (153)
16 PACBIO ss3784819579 Jul 13, 2019 (153)
17 EVA ss3828736246 Apr 26, 2020 (154)
18 GNOMAD ss4117954227 Apr 26, 2021 (155)
19 GNOMAD ss4117954228 Apr 26, 2021 (155)
20 GNOMAD ss4117954229 Apr 26, 2021 (155)
21 GNOMAD ss4117954230 Apr 26, 2021 (155)
22 GNOMAD ss4117954231 Apr 26, 2021 (155)
23 GNOMAD ss4117954232 Apr 26, 2021 (155)
24 GNOMAD ss4117954233 Apr 26, 2021 (155)
25 GNOMAD ss4117954234 Apr 26, 2021 (155)
26 GNOMAD ss4117954235 Apr 26, 2021 (155)
27 GNOMAD ss4117954236 Apr 26, 2021 (155)
28 GNOMAD ss4117954237 Apr 26, 2021 (155)
29 GNOMAD ss4117954238 Apr 26, 2021 (155)
30 TOMMO_GENOMICS ss5167377722 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5167377723 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5167377724 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5167377725 Apr 26, 2021 (155)
34 1000G_HIGH_COVERAGE ss5260526121 Oct 13, 2022 (156)
35 1000G_HIGH_COVERAGE ss5260526122 Oct 13, 2022 (156)
36 1000G_HIGH_COVERAGE ss5260526123 Oct 13, 2022 (156)
37 1000G_HIGH_COVERAGE ss5260526124 Oct 13, 2022 (156)
38 1000G_HIGH_COVERAGE ss5260526125 Oct 13, 2022 (156)
39 HUGCELL_USP ss5459142480 Oct 13, 2022 (156)
40 HUGCELL_USP ss5459142481 Oct 13, 2022 (156)
41 HUGCELL_USP ss5459142482 Oct 13, 2022 (156)
42 HUGCELL_USP ss5459142483 Oct 13, 2022 (156)
43 TOMMO_GENOMICS ss5702194154 Oct 13, 2022 (156)
44 TOMMO_GENOMICS ss5702194156 Oct 13, 2022 (156)
45 TOMMO_GENOMICS ss5702194157 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5702194158 Oct 13, 2022 (156)
47 EVA ss5844516815 Oct 13, 2022 (156)
48 EVA ss5844516816 Oct 13, 2022 (156)
49 EVA ss5854382590 Oct 13, 2022 (156)
50 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 12635136 (NC_000004.11:110354156::A 2587/3854)
Row 12635137 (NC_000004.11:110354156::AA 570/3854)

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

Submission ignored due to conflicting rows:
Row 12635136 (NC_000004.11:110354156::A 2587/3854)
Row 12635137 (NC_000004.11:110354156::AA 570/3854)

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

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

Submission ignored due to conflicting rows:
Row 160867294 (NC_000004.12:109433000::A 55333/97172)
Row 160867295 (NC_000004.12:109433000::AA 426/97222)
Row 160867296 (NC_000004.12:109433000::AAA 6/97324)...

- Apr 26, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 25347029 (NC_000004.11:110354156::A 5154/16416)
Row 25347030 (NC_000004.11:110354156:A: 14/16416)
Row 25347031 (NC_000004.11:110354156::AA 39/16416)...

- Apr 26, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 25347029 (NC_000004.11:110354156::A 5154/16416)
Row 25347030 (NC_000004.11:110354156:A: 14/16416)
Row 25347031 (NC_000004.11:110354156::AA 39/16416)...

- Apr 26, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 25347029 (NC_000004.11:110354156::A 5154/16416)
Row 25347030 (NC_000004.11:110354156:A: 14/16416)
Row 25347031 (NC_000004.11:110354156::AA 39/16416)...

- Apr 26, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 25347029 (NC_000004.11:110354156::A 5154/16416)
Row 25347030 (NC_000004.11:110354156:A: 14/16416)
Row 25347031 (NC_000004.11:110354156::AA 39/16416)...

- Apr 26, 2021 (155)
69 14KJPN

Submission ignored due to conflicting rows:
Row 36031258 (NC_000004.12:109433000::A 9473/28214)
Row 36031260 (NC_000004.12:109433000:A: 22/28214)
Row 36031261 (NC_000004.12:109433000::AA 57/28214)...

- Oct 13, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 36031258 (NC_000004.12:109433000::A 9473/28214)
Row 36031260 (NC_000004.12:109433000:A: 22/28214)
Row 36031261 (NC_000004.12:109433000::AA 57/28214)...

- Oct 13, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 36031258 (NC_000004.12:109433000::A 9473/28214)
Row 36031260 (NC_000004.12:109433000:A: 22/28214)
Row 36031261 (NC_000004.12:109433000::AA 57/28214)...

- Oct 13, 2022 (156)
72 14KJPN

Submission ignored due to conflicting rows:
Row 36031258 (NC_000004.12:109433000::A 9473/28214)
Row 36031260 (NC_000004.12:109433000:A: 22/28214)
Row 36031261 (NC_000004.12:109433000::AA 57/28214)...

- Oct 13, 2022 (156)
73 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 12635136 (NC_000004.11:110354156::A 2515/3708)
Row 12635137 (NC_000004.11:110354156::AA 564/3708)

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

Submission ignored due to conflicting rows:
Row 12635136 (NC_000004.11:110354156::A 2515/3708)
Row 12635137 (NC_000004.11:110354156::AA 564/3708)

- Oct 12, 2018 (152)
75 ALFA NC_000004.12 - 109433001 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)
rs57059686 May 11, 2012 (137)
rs139126939 May 11, 2012 (137)
rs149931394 Sep 17, 2011 (135)
rs397705042 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2995322616 NC_000004.11:110354156:AAAAAAAA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4117954238, ss5260526124 NC_000004.12:109433000:AAAAAAAA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4117954237 NC_000004.12:109433000:AAAAA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss5167377725 NC_000004.11:110354156:AAAA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4117954236, ss5702194158 NC_000004.12:109433000:AAAA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3712790774, ss4117954235 NC_000004.12:109433000:AAA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4117954234, ss5260526125, ss5459142483 NC_000004.12:109433000:AA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3712790773 NC_000004.12:109433001:AA: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3784819579, ss5167377723 NC_000004.11:110354156:A: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5260526122, ss5459142480, ss5702194156 NC_000004.12:109433000:A: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3712790772 NC_000004.12:109433002:A: NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss295182002 NC_000004.10:110573606::A NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss295182003 NC_000004.10:110573623::A NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1704304282, ss1704304336, ss3828736246, ss5167377722, ss5844516815 NC_000004.11:110354156::A NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3647815589, ss4117954227, ss5260526121, ss5459142481, ss5702194154, ss5854382590 NC_000004.12:109433000::A NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3712790771 NC_000004.12:109433003::A NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss82328373, ss95365269 NT_016354.19:34901895::A NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1704304284, ss1704304337, ss5167377724, ss5844516816 NC_000004.11:110354156::AA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4117954228, ss5260526123, ss5459142482, ss5702194157 NC_000004.12:109433000::AA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3712790770 NC_000004.12:109433003::AA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4117954229 NC_000004.12:109433000::AAA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4117954230 NC_000004.12:109433000::AAAA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
5172204759 NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4117954231 NC_000004.12:109433000::AAAAA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4117954232 NC_000004.12:109433000::AAAAAA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4117954233 NC_000004.12:109433000::AAAAAAAAA NC_000004.12:109433000:AAAAAAAAAAA…

NC_000004.12:109433000:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs11369038

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.post761+d5e8e07