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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.

rs34644413

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:157754693-157754713 (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)12 / del(A)6 / del(A)5 / del…

del(A)12 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5

Variation Type
Indel Insertion and Deletion
Frequency
(A)21=0.4730 (2369/5008, 1000G)
del(A)12=0.0000 (0/1638, ALFA)
del(A)6=0.0000 (0/1638, ALFA) (+ 7 more)
del(A)5=0.0000 (0/1638, ALFA)
del(A)4=0.0000 (0/1638, ALFA)
delAAA=0.0000 (0/1638, ALFA)
delAA=0.0000 (0/1638, ALFA)
delA=0.0000 (0/1638, ALFA)
dupA=0.0000 (0/1638, ALFA)
dupAAA=0.0000 (0/1638, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LSM11 : 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 1638 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1108 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 222 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 2 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 220 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 36 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 178 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 14 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 76 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 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)21=0.4730 delAA=0.5270
1000Genomes African Sub 1322 (A)21=0.4546 delAA=0.5454
1000Genomes East Asian Sub 1008 (A)21=0.4276 delAA=0.5724
1000Genomes Europe Sub 1006 (A)21=0.4821 delAA=0.5179
1000Genomes South Asian Sub 978 (A)21=0.458 delAA=0.542
1000Genomes American Sub 694 (A)21=0.582 delAA=0.418
Allele Frequency Aggregator Total Global 1638 (A)21=1.0000 del(A)12=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator European Sub 1108 (A)21=1.0000 del(A)12=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator African Sub 222 (A)21=1.000 del(A)12=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 178 (A)21=1.000 del(A)12=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000
Allele Frequency Aggregator Other Sub 76 (A)21=1.00 del(A)12=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 36 (A)21=1.00 del(A)12=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 14 (A)21=1.00 del(A)12=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 4 (A)21=1.0 del(A)12=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAAA=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 5 NC_000005.10:g.157754702_157754713del
GRCh38.p14 chr 5 NC_000005.10:g.157754708_157754713del
GRCh38.p14 chr 5 NC_000005.10:g.157754709_157754713del
GRCh38.p14 chr 5 NC_000005.10:g.157754710_157754713del
GRCh38.p14 chr 5 NC_000005.10:g.157754711_157754713del
GRCh38.p14 chr 5 NC_000005.10:g.157754712_157754713del
GRCh38.p14 chr 5 NC_000005.10:g.157754713del
GRCh38.p14 chr 5 NC_000005.10:g.157754713dup
GRCh38.p14 chr 5 NC_000005.10:g.157754712_157754713dup
GRCh38.p14 chr 5 NC_000005.10:g.157754711_157754713dup
GRCh38.p14 chr 5 NC_000005.10:g.157754710_157754713dup
GRCh38.p14 chr 5 NC_000005.10:g.157754709_157754713dup
GRCh37.p13 chr 5 NC_000005.9:g.157181710_157181721del
GRCh37.p13 chr 5 NC_000005.9:g.157181716_157181721del
GRCh37.p13 chr 5 NC_000005.9:g.157181717_157181721del
GRCh37.p13 chr 5 NC_000005.9:g.157181718_157181721del
GRCh37.p13 chr 5 NC_000005.9:g.157181719_157181721del
GRCh37.p13 chr 5 NC_000005.9:g.157181720_157181721del
GRCh37.p13 chr 5 NC_000005.9:g.157181721del
GRCh37.p13 chr 5 NC_000005.9:g.157181721dup
GRCh37.p13 chr 5 NC_000005.9:g.157181720_157181721dup
GRCh37.p13 chr 5 NC_000005.9:g.157181719_157181721dup
GRCh37.p13 chr 5 NC_000005.9:g.157181718_157181721dup
GRCh37.p13 chr 5 NC_000005.9:g.157181717_157181721dup
Gene: LSM11, LSM11, U7 small nuclear RNA associated (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LSM11 transcript NM_173491.4:c.673-152_673…

NM_173491.4:c.673-152_673-141del

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)21= del(A)12 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5
GRCh38.p14 chr 5 NC_000005.10:g.157754693_157754713= NC_000005.10:g.157754702_157754713del NC_000005.10:g.157754708_157754713del NC_000005.10:g.157754709_157754713del NC_000005.10:g.157754710_157754713del NC_000005.10:g.157754711_157754713del NC_000005.10:g.157754712_157754713del NC_000005.10:g.157754713del NC_000005.10:g.157754713dup NC_000005.10:g.157754712_157754713dup NC_000005.10:g.157754711_157754713dup NC_000005.10:g.157754710_157754713dup NC_000005.10:g.157754709_157754713dup
GRCh37.p13 chr 5 NC_000005.9:g.157181701_157181721= NC_000005.9:g.157181710_157181721del NC_000005.9:g.157181716_157181721del NC_000005.9:g.157181717_157181721del NC_000005.9:g.157181718_157181721del NC_000005.9:g.157181719_157181721del NC_000005.9:g.157181720_157181721del NC_000005.9:g.157181721del NC_000005.9:g.157181721dup NC_000005.9:g.157181720_157181721dup NC_000005.9:g.157181719_157181721dup NC_000005.9:g.157181718_157181721dup NC_000005.9:g.157181717_157181721dup
LSM11 transcript NM_173491.2:c.673-161= NM_173491.2:c.673-152_673-141del NM_173491.2:c.673-146_673-141del NM_173491.2:c.673-145_673-141del NM_173491.2:c.673-144_673-141del NM_173491.2:c.673-143_673-141del NM_173491.2:c.673-142_673-141del NM_173491.2:c.673-141del NM_173491.2:c.673-141dup NM_173491.2:c.673-142_673-141dup NM_173491.2:c.673-143_673-141dup NM_173491.2:c.673-144_673-141dup NM_173491.2:c.673-145_673-141dup
LSM11 transcript NM_173491.4:c.673-161= NM_173491.4:c.673-152_673-141del NM_173491.4:c.673-146_673-141del NM_173491.4:c.673-145_673-141del NM_173491.4:c.673-144_673-141del NM_173491.4:c.673-143_673-141del NM_173491.4:c.673-142_673-141del NM_173491.4:c.673-141del NM_173491.4:c.673-141dup NM_173491.4:c.673-142_673-141dup NM_173491.4:c.673-143_673-141dup NM_173491.4:c.673-144_673-141dup NM_173491.4:c.673-145_673-141dup
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#.

55 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80932125 Dec 15, 2007 (137)
2 HUMANGENOME_JCVI ss95411652 Feb 13, 2009 (130)
3 PJP ss295252574 May 09, 2011 (137)
4 PJP ss295252575 May 09, 2011 (137)
5 1000GENOMES ss1374730922 Aug 21, 2014 (142)
6 EVA_UK10K_ALSPAC ss1704938046 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1704938105 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710239446 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1710239449 Apr 01, 2015 (144)
10 URBANLAB ss3648207495 Oct 12, 2018 (152)
11 EVA_DECODE ss3716057566 Jul 13, 2019 (153)
12 EVA_DECODE ss3716057567 Jul 13, 2019 (153)
13 EVA_DECODE ss3716057568 Jul 13, 2019 (153)
14 EVA_DECODE ss3716057569 Jul 13, 2019 (153)
15 EVA_DECODE ss3716057570 Jul 13, 2019 (153)
16 EVA_DECODE ss3716057571 Jul 13, 2019 (153)
17 ACPOP ss3732971650 Jul 13, 2019 (153)
18 ACPOP ss3732971651 Jul 13, 2019 (153)
19 PACBIO ss3785299578 Jul 13, 2019 (153)
20 PACBIO ss3790674861 Jul 13, 2019 (153)
21 PACBIO ss3795551961 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3807454953 Jul 13, 2019 (153)
23 EVA ss3829594496 Apr 26, 2020 (154)
24 GNOMAD ss4132543349 Apr 26, 2021 (155)
25 GNOMAD ss4132543350 Apr 26, 2021 (155)
26 GNOMAD ss4132543351 Apr 26, 2021 (155)
27 GNOMAD ss4132543352 Apr 26, 2021 (155)
28 GNOMAD ss4132543353 Apr 26, 2021 (155)
29 GNOMAD ss4132543354 Apr 26, 2021 (155)
30 GNOMAD ss4132543355 Apr 26, 2021 (155)
31 GNOMAD ss4132543356 Apr 26, 2021 (155)
32 GNOMAD ss4132543357 Apr 26, 2021 (155)
33 GNOMAD ss4132543358 Apr 26, 2021 (155)
34 GNOMAD ss4132543359 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5174966248 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5174966249 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5174966250 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5174966251 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5174966252 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5266479967 Oct 13, 2022 (156)
41 1000G_HIGH_COVERAGE ss5266479969 Oct 13, 2022 (156)
42 1000G_HIGH_COVERAGE ss5266479970 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5266479971 Oct 13, 2022 (156)
44 1000G_HIGH_COVERAGE ss5266479972 Oct 13, 2022 (156)
45 HUGCELL_USP ss5464379810 Oct 13, 2022 (156)
46 HUGCELL_USP ss5464379811 Oct 13, 2022 (156)
47 HUGCELL_USP ss5464379812 Oct 13, 2022 (156)
48 HUGCELL_USP ss5464379813 Oct 13, 2022 (156)
49 HUGCELL_USP ss5464379814 Oct 13, 2022 (156)
50 TOMMO_GENOMICS ss5712282532 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5712282533 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5712282534 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5712282535 Oct 13, 2022 (156)
54 TMC_SNPDB2 ss5846951402 Oct 13, 2022 (156)
55 EVA ss5980325804 Oct 13, 2022 (156)
56 1000Genomes NC_000005.9 - 157181701 Oct 12, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16502011 (NC_000005.9:157181700:AAA: 987/3854)
Row 16502012 (NC_000005.9:157181701:A: 2605/3854)

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

Submission ignored due to conflicting rows:
Row 16502011 (NC_000005.9:157181700:AAA: 987/3854)
Row 16502012 (NC_000005.9:157181701:A: 2605/3854)

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

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

Submission ignored due to conflicting rows:
Row 209695757 (NC_000005.10:157754692::A 261/82048)
Row 209695758 (NC_000005.10:157754692::AA 12/82192)
Row 209695759 (NC_000005.10:157754692::AAA 6/82194)...

- Apr 26, 2021 (155)
70 Northern Sweden

Submission ignored due to conflicting rows:
Row 6256515 (NC_000005.9:157181700:A: 116/476)
Row 6256516 (NC_000005.9:157181700:AA: 94/476)

- Jul 13, 2019 (153)
71 Northern Sweden

Submission ignored due to conflicting rows:
Row 6256515 (NC_000005.9:157181700:A: 116/476)
Row 6256516 (NC_000005.9:157181700:AA: 94/476)

- Jul 13, 2019 (153)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 32935555 (NC_000005.9:157181700:A: 7123/16456)
Row 32935556 (NC_000005.9:157181700:AA: 3865/16456)
Row 32935557 (NC_000005.9:157181700:AAA: 8/16456)...

- Apr 26, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 32935555 (NC_000005.9:157181700:A: 7123/16456)
Row 32935556 (NC_000005.9:157181700:AA: 3865/16456)
Row 32935557 (NC_000005.9:157181700:AAA: 8/16456)...

- Apr 26, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 32935555 (NC_000005.9:157181700:A: 7123/16456)
Row 32935556 (NC_000005.9:157181700:AA: 3865/16456)
Row 32935557 (NC_000005.9:157181700:AAA: 8/16456)...

- Apr 26, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 32935555 (NC_000005.9:157181700:A: 7123/16456)
Row 32935556 (NC_000005.9:157181700:AA: 3865/16456)
Row 32935557 (NC_000005.9:157181700:AAA: 8/16456)...

- Apr 26, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 32935555 (NC_000005.9:157181700:A: 7123/16456)
Row 32935556 (NC_000005.9:157181700:AA: 3865/16456)
Row 32935557 (NC_000005.9:157181700:AAA: 8/16456)...

- Apr 26, 2021 (155)
77 14KJPN

Submission ignored due to conflicting rows:
Row 46119636 (NC_000005.10:157754692:A: 13229/28184)
Row 46119637 (NC_000005.10:157754692:AA: 7278/28184)
Row 46119638 (NC_000005.10:157754692:AAA: 12/28184)...

- Oct 13, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 46119636 (NC_000005.10:157754692:A: 13229/28184)
Row 46119637 (NC_000005.10:157754692:AA: 7278/28184)
Row 46119638 (NC_000005.10:157754692:AAA: 12/28184)...

- Oct 13, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 46119636 (NC_000005.10:157754692:A: 13229/28184)
Row 46119637 (NC_000005.10:157754692:AA: 7278/28184)
Row 46119638 (NC_000005.10:157754692:AAA: 12/28184)...

- Oct 13, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 46119636 (NC_000005.10:157754692:A: 13229/28184)
Row 46119637 (NC_000005.10:157754692:AA: 7278/28184)
Row 46119638 (NC_000005.10:157754692:AAA: 12/28184)...

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

Submission ignored due to conflicting rows:
Row 16502011 (NC_000005.9:157181700:AAA: 980/3708)
Row 16502012 (NC_000005.9:157181701:A: 2482/3708)

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

Submission ignored due to conflicting rows:
Row 16502011 (NC_000005.9:157181700:AAA: 980/3708)
Row 16502012 (NC_000005.9:157181701:A: 2482/3708)

- Oct 12, 2018 (152)
83 ALFA NC_000005.10 - 157754693 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)
rs35885459 May 11, 2012 (137)
rs61035270 May 11, 2012 (137)
rs71903091 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4132543359 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAA:

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4132543358 NC_000005.10:157754692:AAAAAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3716057571, ss4132543357 NC_000005.10:157754692:AAAAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss95411652 NT_023133.13:1992989:AAAAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3648207495, ss4132543356, ss5266479972, ss5464379814 NC_000005.10:157754692:AAAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3716057570 NC_000005.10:157754693:AAAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1704938046, ss1704938105, ss5174966250, ss5980325804 NC_000005.9:157181700:AAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4132543355, ss5266479969, ss5464379813, ss5712282534 NC_000005.10:157754692:AAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3716057569 NC_000005.10:157754694:AAA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
29649316, ss1374730922, ss3732971651, ss3785299578, ss3790674861, ss3795551961, ss5174966249 NC_000005.9:157181700:AA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1710239446, ss1710239449 NC_000005.9:157181701:AA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3807454953, ss4132543354, ss5266479970, ss5464379811, ss5712282533 NC_000005.10:157754692:AA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3716057568 NC_000005.10:157754695:AA: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss295252574 NC_000005.8:157114278:A: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss80932125, ss295252575 NC_000005.8:157114298:A: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3732971650, ss3829594496, ss5174966248 NC_000005.9:157181700:A: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
NC_000005.9:157181701:A: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5266479967, ss5464379810, ss5712282532 NC_000005.10:157754692:A: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3716057567 NC_000005.10:157754696:A: NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5174966251 NC_000005.9:157181700::A NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4132543349, ss5266479971, ss5464379812, ss5712282535 NC_000005.10:157754692::A NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3716057566 NC_000005.10:157754697::A NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4132543350, ss5846951402 NC_000005.10:157754692::AA NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5174966252 NC_000005.9:157181700::AAA NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4132543351 NC_000005.10:157754692::AAA NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
9268691902 NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4132543352 NC_000005.10:157754692::AAAA NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4132543353 NC_000005.10:157754692::AAAAA NC_000005.10:157754692:AAAAAAAAAAA…

NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Help

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

No publications for rs34644413

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