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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.

rs71178700

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:16492862-16492880 (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)6 / del(A)4 / delAAA / delAA…

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

Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.4157 (2082/5008, 1000G)
del(A)6=0.000 (0/538, ALFA)
delAAA=0.000 (0/538, ALFA) (+ 5 more)
delAA=0.000 (0/538, ALFA)
delA=0.000 (0/538, ALFA)
dupA=0.000 (0/538, ALFA)
dupAA=0.000 (0/538, ALFA)
dupAAA=0.000 (0/538, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CALR3 : 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 538 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 226 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 196 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 14 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 182 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 16 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 10 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 4 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 72 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 22 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=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 -

No frequency provided

dupA=0.4157
1000Genomes African Sub 1322 -

No frequency provided

dupA=0.2859
1000Genomes East Asian Sub 1008 -

No frequency provided

dupA=0.3879
1000Genomes Europe Sub 1006 -

No frequency provided

dupA=0.4960
1000Genomes South Asian Sub 978 -

No frequency provided

dupA=0.517
1000Genomes American Sub 694 -

No frequency provided

dupA=0.444
Allele Frequency Aggregator Total Global 538 (A)19=1.000 del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator European Sub 226 (A)19=1.000 del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator African Sub 196 (A)19=1.000 del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 72 (A)19=1.00 del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Other Sub 22 (A)19=1.00 del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 16 (A)19=1.00 del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 4 (A)19=1.0 del(A)6=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator South Asian Sub 2 (A)19=1.0 del(A)6=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=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 19 NC_000019.10:g.16492875_16492880del
GRCh38.p14 chr 19 NC_000019.10:g.16492877_16492880del
GRCh38.p14 chr 19 NC_000019.10:g.16492878_16492880del
GRCh38.p14 chr 19 NC_000019.10:g.16492879_16492880del
GRCh38.p14 chr 19 NC_000019.10:g.16492880del
GRCh38.p14 chr 19 NC_000019.10:g.16492880dup
GRCh38.p14 chr 19 NC_000019.10:g.16492879_16492880dup
GRCh38.p14 chr 19 NC_000019.10:g.16492878_16492880dup
GRCh38.p14 chr 19 NC_000019.10:g.16492876_16492880dup
GRCh38.p14 chr 19 NC_000019.10:g.16492875_16492880dup
GRCh37.p13 chr 19 NC_000019.9:g.16603686_16603691del
GRCh37.p13 chr 19 NC_000019.9:g.16603688_16603691del
GRCh37.p13 chr 19 NC_000019.9:g.16603689_16603691del
GRCh37.p13 chr 19 NC_000019.9:g.16603690_16603691del
GRCh37.p13 chr 19 NC_000019.9:g.16603691del
GRCh37.p13 chr 19 NC_000019.9:g.16603691dup
GRCh37.p13 chr 19 NC_000019.9:g.16603690_16603691dup
GRCh37.p13 chr 19 NC_000019.9:g.16603689_16603691dup
GRCh37.p13 chr 19 NC_000019.9:g.16603687_16603691dup
GRCh37.p13 chr 19 NC_000019.9:g.16603686_16603691dup
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140338_140343del
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140340_140343del
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140341_140343del
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140342_140343del
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140343del
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140343dup
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140342_140343dup
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140341_140343dup
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140339_140343dup
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140338_140343dup
Gene: CALR3, calreticulin 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CALR3 transcript NM_145046.5:c.194-2297_19…

NM_145046.5:c.194-2297_194-2292del

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)19= del(A)6 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)5 dup(A)6
GRCh38.p14 chr 19 NC_000019.10:g.16492862_16492880= NC_000019.10:g.16492875_16492880del NC_000019.10:g.16492877_16492880del NC_000019.10:g.16492878_16492880del NC_000019.10:g.16492879_16492880del NC_000019.10:g.16492880del NC_000019.10:g.16492880dup NC_000019.10:g.16492879_16492880dup NC_000019.10:g.16492878_16492880dup NC_000019.10:g.16492876_16492880dup NC_000019.10:g.16492875_16492880dup
GRCh37.p13 chr 19 NC_000019.9:g.16603673_16603691= NC_000019.9:g.16603686_16603691del NC_000019.9:g.16603688_16603691del NC_000019.9:g.16603689_16603691del NC_000019.9:g.16603690_16603691del NC_000019.9:g.16603691del NC_000019.9:g.16603691dup NC_000019.9:g.16603690_16603691dup NC_000019.9:g.16603689_16603691dup NC_000019.9:g.16603687_16603691dup NC_000019.9:g.16603686_16603691dup
CALR3 RefSeqGene (LRG_422) NG_031959.2:g.140325_140343= NG_031959.2:g.140338_140343del NG_031959.2:g.140340_140343del NG_031959.2:g.140341_140343del NG_031959.2:g.140342_140343del NG_031959.2:g.140343del NG_031959.2:g.140343dup NG_031959.2:g.140342_140343dup NG_031959.2:g.140341_140343dup NG_031959.2:g.140339_140343dup NG_031959.2:g.140338_140343dup
CALR3 transcript NM_145046.4:c.194-2292= NM_145046.4:c.194-2297_194-2292del NM_145046.4:c.194-2295_194-2292del NM_145046.4:c.194-2294_194-2292del NM_145046.4:c.194-2293_194-2292del NM_145046.4:c.194-2292del NM_145046.4:c.194-2292dup NM_145046.4:c.194-2293_194-2292dup NM_145046.4:c.194-2294_194-2292dup NM_145046.4:c.194-2296_194-2292dup NM_145046.4:c.194-2297_194-2292dup
CALR3 transcript NM_145046.5:c.194-2292= NM_145046.5:c.194-2297_194-2292del NM_145046.5:c.194-2295_194-2292del NM_145046.5:c.194-2294_194-2292del NM_145046.5:c.194-2293_194-2292del NM_145046.5:c.194-2292del NM_145046.5:c.194-2292dup NM_145046.5:c.194-2293_194-2292dup NM_145046.5:c.194-2294_194-2292dup NM_145046.5:c.194-2296_194-2292dup NM_145046.5:c.194-2297_194-2292dup
CALR3 transcript variant X1 XM_005259729.1:c.193+2889= XM_005259729.1:c.193+2884_193+2889del XM_005259729.1:c.193+2886_193+2889del XM_005259729.1:c.193+2887_193+2889del XM_005259729.1:c.193+2888_193+2889del XM_005259729.1:c.193+2889del XM_005259729.1:c.193+2889dup XM_005259729.1:c.193+2888_193+2889dup XM_005259729.1:c.193+2887_193+2889dup XM_005259729.1:c.193+2885_193+2889dup XM_005259729.1:c.193+2884_193+2889dup
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#.

52 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95723297 Dec 05, 2013 (138)
2 PJP ss294955720 May 09, 2011 (135)
3 SSMP ss664428442 Apr 01, 2015 (144)
4 1000GENOMES ss1378011365 Aug 21, 2014 (142)
5 EVA_UK10K_ALSPAC ss1709140389 Jan 10, 2018 (151)
6 EVA_UK10K_TWINSUK ss1709140590 Jan 10, 2018 (151)
7 EVA_UK10K_TWINSUK ss1710783251 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1710783252 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710783253 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1710783254 Apr 01, 2015 (144)
11 SWEGEN ss3017181012 Jan 10, 2018 (151)
12 URBANLAB ss3650877891 Oct 12, 2018 (152)
13 EVA_DECODE ss3702443423 Jul 13, 2019 (153)
14 EVA_DECODE ss3702443424 Jul 13, 2019 (153)
15 EVA_DECODE ss3702443425 Jul 13, 2019 (153)
16 EVA_DECODE ss3702443426 Jul 13, 2019 (153)
17 EVA_DECODE ss3702443427 Jul 13, 2019 (153)
18 PACBIO ss3793400040 Jul 13, 2019 (153)
19 PACBIO ss3793400041 Jul 13, 2019 (153)
20 PACBIO ss3798286765 Jul 13, 2019 (153)
21 PACBIO ss3798286766 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3821121341 Jul 13, 2019 (153)
23 EVA ss3835377293 Apr 27, 2020 (154)
24 GNOMAD ss4328466247 Apr 27, 2021 (155)
25 GNOMAD ss4328466248 Apr 27, 2021 (155)
26 GNOMAD ss4328466249 Apr 27, 2021 (155)
27 GNOMAD ss4328466250 Apr 27, 2021 (155)
28 GNOMAD ss4328466251 Apr 27, 2021 (155)
29 GNOMAD ss4328466252 Apr 27, 2021 (155)
30 GNOMAD ss4328466253 Apr 27, 2021 (155)
31 GNOMAD ss4328466254 Apr 27, 2021 (155)
32 GNOMAD ss4328466255 Apr 27, 2021 (155)
33 TOMMO_GENOMICS ss5226980576 Apr 27, 2021 (155)
34 TOMMO_GENOMICS ss5226980577 Apr 27, 2021 (155)
35 TOMMO_GENOMICS ss5226980578 Apr 27, 2021 (155)
36 TOMMO_GENOMICS ss5226980579 Apr 27, 2021 (155)
37 1000G_HIGH_COVERAGE ss5306669403 Oct 13, 2022 (156)
38 1000G_HIGH_COVERAGE ss5306669404 Oct 13, 2022 (156)
39 1000G_HIGH_COVERAGE ss5306669406 Oct 13, 2022 (156)
40 1000G_HIGH_COVERAGE ss5306669407 Oct 13, 2022 (156)
41 HUGCELL_USP ss5499274397 Oct 13, 2022 (156)
42 HUGCELL_USP ss5499274398 Oct 13, 2022 (156)
43 HUGCELL_USP ss5499274399 Oct 13, 2022 (156)
44 HUGCELL_USP ss5499274400 Oct 13, 2022 (156)
45 TOMMO_GENOMICS ss5785343594 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5785343595 Oct 13, 2022 (156)
47 TOMMO_GENOMICS ss5785343596 Oct 13, 2022 (156)
48 TOMMO_GENOMICS ss5785343598 Oct 13, 2022 (156)
49 EVA ss5840322575 Oct 13, 2022 (156)
50 EVA ss5840322576 Oct 13, 2022 (156)
51 EVA ss5840322577 Oct 13, 2022 (156)
52 EVA ss5852223802 Oct 13, 2022 (156)
53 1000Genomes NC_000019.9 - 16603673 Oct 12, 2018 (152)
54 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 42057774 (NC_000019.9:16603672::A 1278/3854)
Row 42057775 (NC_000019.9:16603672::AA 1249/3854)
Row 42057776 (NC_000019.9:16603672:AA: 893/3854)

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

Submission ignored due to conflicting rows:
Row 42057774 (NC_000019.9:16603672::A 1278/3854)
Row 42057775 (NC_000019.9:16603672::AA 1249/3854)
Row 42057776 (NC_000019.9:16603672:AA: 893/3854)

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

Submission ignored due to conflicting rows:
Row 42057774 (NC_000019.9:16603672::A 1278/3854)
Row 42057775 (NC_000019.9:16603672::AA 1249/3854)
Row 42057776 (NC_000019.9:16603672:AA: 893/3854)

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

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 535432105 (NC_000019.10:16492861::A 69684/114310)
Row 535432106 (NC_000019.10:16492861::AA 1214/114332)
Row 535432107 (NC_000019.10:16492861::AAA 8/114594)...

- Apr 27, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 84949883 (NC_000019.9:16603672::A 10966/16562)
Row 84949884 (NC_000019.9:16603672:AA: 902/16562)
Row 84949885 (NC_000019.9:16603672:AAA: 4/16562)...

- Apr 27, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 84949883 (NC_000019.9:16603672::A 10966/16562)
Row 84949884 (NC_000019.9:16603672:AA: 902/16562)
Row 84949885 (NC_000019.9:16603672:AAA: 4/16562)...

- Apr 27, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 84949883 (NC_000019.9:16603672::A 10966/16562)
Row 84949884 (NC_000019.9:16603672:AA: 902/16562)
Row 84949885 (NC_000019.9:16603672:AAA: 4/16562)...

- Apr 27, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 84949883 (NC_000019.9:16603672::A 10966/16562)
Row 84949884 (NC_000019.9:16603672:AA: 902/16562)
Row 84949885 (NC_000019.9:16603672:AAA: 4/16562)...

- Apr 27, 2021 (155)
70 14KJPN

Submission ignored due to conflicting rows:
Row 119180698 (NC_000019.10:16492861::A 16196/27040)
Row 119180699 (NC_000019.10:16492861:AA: 1539/27040)
Row 119180700 (NC_000019.10:16492861:AAA: 7/27040)...

- Oct 13, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 119180698 (NC_000019.10:16492861::A 16196/27040)
Row 119180699 (NC_000019.10:16492861:AA: 1539/27040)
Row 119180700 (NC_000019.10:16492861:AAA: 7/27040)...

- Oct 13, 2022 (156)
72 14KJPN

Submission ignored due to conflicting rows:
Row 119180698 (NC_000019.10:16492861::A 16196/27040)
Row 119180699 (NC_000019.10:16492861:AA: 1539/27040)
Row 119180700 (NC_000019.10:16492861:AAA: 7/27040)...

- Oct 13, 2022 (156)
73 14KJPN

Submission ignored due to conflicting rows:
Row 119180698 (NC_000019.10:16492861::A 16196/27040)
Row 119180699 (NC_000019.10:16492861:AA: 1539/27040)
Row 119180700 (NC_000019.10:16492861:AAA: 7/27040)...

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

Submission ignored due to conflicting rows:
Row 42057774 (NC_000019.9:16603672::A 1321/3708)
Row 42057775 (NC_000019.9:16603672::AA 1133/3708)
Row 42057776 (NC_000019.9:16603672:AA: 803/3708)

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

Submission ignored due to conflicting rows:
Row 42057774 (NC_000019.9:16603672::A 1321/3708)
Row 42057775 (NC_000019.9:16603672::AA 1133/3708)
Row 42057776 (NC_000019.9:16603672:AA: 803/3708)

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

Submission ignored due to conflicting rows:
Row 42057774 (NC_000019.9:16603672::A 1321/3708)
Row 42057775 (NC_000019.9:16603672::AA 1133/3708)
Row 42057776 (NC_000019.9:16603672:AA: 803/3708)

- Oct 12, 2018 (152)
77 ALFA NC_000019.10 - 16492862 Apr 27, 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)
rs143069625 Sep 17, 2011 (135)
rs796502580 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7051234014 NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4328466255 NC_000019.10:16492861:AAAA: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss5226980578 NC_000019.9:16603672:AAA: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3702443427, ss4328466254, ss5785343596 NC_000019.10:16492861:AAA: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
7051234014 NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1709140389, ss1709140590, ss3017181012, ss3793400040, ss3798286765, ss5226980577, ss5840322577 NC_000019.9:16603672:AA: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4328466253, ss5306669404, ss5499274398, ss5785343595, ss5852223802 NC_000019.10:16492861:AA: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
7051234014 NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3702443426 NC_000019.10:16492862:AA: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4328466252, ss5306669406, ss5499274399 NC_000019.10:16492861:A: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
7051234014 NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3702443425 NC_000019.10:16492863:A: NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss294955720 NC_000019.8:16464691::A NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
75918170, ss1378011365, ss3793400041, ss3798286766, ss3835377293, ss5226980576, ss5840322575 NC_000019.9:16603672::A NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss1710783251, ss1710783252 NC_000019.9:16603674::A NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3821121341, ss4328466247, ss5306669403, ss5499274397, ss5785343594 NC_000019.10:16492861::A NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
7051234014 NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3702443424 NC_000019.10:16492864::A NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss95723297 NT_011295.11:7866493::A NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss664428442, ss5226980579, ss5840322576 NC_000019.9:16603672::AA NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss1710783253, ss1710783254 NC_000019.9:16603674::AA NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3650877891, ss4328466248, ss5306669407, ss5499274400, ss5785343598 NC_000019.10:16492861::AA NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
7051234014 NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3702443423 NC_000019.10:16492864::AA NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4328466249 NC_000019.10:16492861::AAA NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
7051234014 NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4328466250 NC_000019.10:16492861::AAAAA NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4328466251 NC_000019.10:16492861::AAAAAA NC_000019.10:16492861:AAAAAAAAAAAA…

NC_000019.10:16492861:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs71178700

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