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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.

rs146988397

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:27271550-27271560 (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
delGC / dupGC / dupGCGC / dup(GC)3

delGC / dupGC / dupGCGC / dup(GC)3 / dup(GC)4 / dup(GC)5 / ins(GC)6

Variation Type
Indel Insertion and Deletion
Frequency
dup(GC)3=0.02455 (335/13644, ALFA)
dup(GC)3=0.0759 (332/4374, Estonian)
dup(GC)3=0.12 (5/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NSMCE1-DT : 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 13644 CGCGCGCGCGC=0.97186 CGCGCGCGC=0.00000, CGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGC=0.02455, CGCGCGCGCGCGCGCGCGC=0.00359, CGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGC=0.00000 0.952606 0.001772 0.045622 9
European Sub 10594 CGCGCGCGCGC=0.96385 CGCGCGCGC=0.00000, CGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGC=0.03153, CGCGCGCGCGCGCGCGCGC=0.00463, CGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGC=0.00000 0.939024 0.002287 0.058689 6
African Sub 1858 CGCGCGCGCGC=1.0000 CGCGCGCGC=0.0000, CGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 68 CGCGCGCGCGC=1.00 CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00 1.0 0.0 0.0 N/A
African American Sub 1790 CGCGCGCGCGC=1.0000 CGCGCGCGC=0.0000, CGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 86 CGCGCGCGCGC=1.00 CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00 1.0 0.0 0.0 N/A
East Asian Sub 64 CGCGCGCGCGC=1.00 CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 22 CGCGCGCGCGC=1.00 CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 112 CGCGCGCGCGC=1.000 CGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 532 CGCGCGCGCGC=1.000 CGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 74 CGCGCGCGCGC=1.00 CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00 1.0 0.0 0.0 N/A
Other Sub 388 CGCGCGCGCGC=0.997 CGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGC=0.003, CGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGC=0.000 0.994845 0.0 0.005155 0


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 13644 (CG)5C=0.97186 delGC=0.00000, dupGC=0.00000, dupGCGC=0.00000, dup(GC)3=0.02455, dup(GC)4=0.00359, dup(GC)5=0.00000, ins(GC)6=0.00000
Allele Frequency Aggregator European Sub 10594 (CG)5C=0.96385 delGC=0.00000, dupGC=0.00000, dupGCGC=0.00000, dup(GC)3=0.03153, dup(GC)4=0.00463, dup(GC)5=0.00000, ins(GC)6=0.00000
Allele Frequency Aggregator African Sub 1858 (CG)5C=1.0000 delGC=0.0000, dupGC=0.0000, dupGCGC=0.0000, dup(GC)3=0.0000, dup(GC)4=0.0000, dup(GC)5=0.0000, ins(GC)6=0.0000
Allele Frequency Aggregator Latin American 2 Sub 532 (CG)5C=1.000 delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)3=0.000, dup(GC)4=0.000, dup(GC)5=0.000, ins(GC)6=0.000
Allele Frequency Aggregator Other Sub 388 (CG)5C=0.997 delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)3=0.003, dup(GC)4=0.000, dup(GC)5=0.000, ins(GC)6=0.000
Allele Frequency Aggregator Latin American 1 Sub 112 (CG)5C=1.000 delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)3=0.000, dup(GC)4=0.000, dup(GC)5=0.000, ins(GC)6=0.000
Allele Frequency Aggregator Asian Sub 86 (CG)5C=1.00 delGC=0.00, dupGC=0.00, dupGCGC=0.00, dup(GC)3=0.00, dup(GC)4=0.00, dup(GC)5=0.00, ins(GC)6=0.00
Allele Frequency Aggregator South Asian Sub 74 (CG)5C=1.00 delGC=0.00, dupGC=0.00, dupGCGC=0.00, dup(GC)3=0.00, dup(GC)4=0.00, dup(GC)5=0.00, ins(GC)6=0.00
Genetic variation in the Estonian population Estonian Study-wide 4374 -

No frequency provided

dup(GC)3=0.0759
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dup(GC)3=0.12
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 16 NC_000016.10:g.27271551GC[4]
GRCh38.p14 chr 16 NC_000016.10:g.27271551GC[6]
GRCh38.p14 chr 16 NC_000016.10:g.27271551GC[7]
GRCh38.p14 chr 16 NC_000016.10:g.27271551GC[8]
GRCh38.p14 chr 16 NC_000016.10:g.27271551GC[9]
GRCh38.p14 chr 16 NC_000016.10:g.27271551GC[10]
GRCh38.p14 chr 16 NC_000016.10:g.27271551GC[11]
GRCh37.p13 chr 16 NC_000016.9:g.27282872GC[4]
GRCh37.p13 chr 16 NC_000016.9:g.27282872GC[6]
GRCh37.p13 chr 16 NC_000016.9:g.27282872GC[7]
GRCh37.p13 chr 16 NC_000016.9:g.27282872GC[8]
GRCh37.p13 chr 16 NC_000016.9:g.27282872GC[9]
GRCh37.p13 chr 16 NC_000016.9:g.27282872GC[10]
GRCh37.p13 chr 16 NC_000016.9:g.27282872GC[11]
Gene: NSMCE1-DT, NSMCE1 divergent transcript (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NSMCE1-DT transcript NR_037184.1: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 (CG)5C= delGC dupGC dupGCGC dup(GC)3 dup(GC)4 dup(GC)5 ins(GC)6
GRCh38.p14 chr 16 NC_000016.10:g.27271550_27271560= NC_000016.10:g.27271551GC[4] NC_000016.10:g.27271551GC[6] NC_000016.10:g.27271551GC[7] NC_000016.10:g.27271551GC[8] NC_000016.10:g.27271551GC[9] NC_000016.10:g.27271551GC[10] NC_000016.10:g.27271551GC[11]
GRCh37.p13 chr 16 NC_000016.9:g.27282871_27282881= NC_000016.9:g.27282872GC[4] NC_000016.9:g.27282872GC[6] NC_000016.9:g.27282872GC[7] NC_000016.9:g.27282872GC[8] NC_000016.9:g.27282872GC[9] NC_000016.9:g.27282872GC[10] NC_000016.9:g.27282872GC[11]
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 1000GENOMES ss327725893 May 09, 2011 (134)
2 1000GENOMES ss327846721 May 09, 2011 (134)
3 1000GENOMES ss328190882 May 09, 2011 (134)
4 LUNTER ss552803758 Apr 25, 2013 (138)
5 LUNTER ss553595050 Apr 25, 2013 (138)
6 BILGI_BIOE ss666667902 Apr 25, 2013 (138)
7 EVA_GENOME_DK ss1574944883 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1708514495 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1708514497 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1708514817 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1708514821 Apr 01, 2015 (144)
12 JJLAB ss2031299615 Sep 14, 2016 (149)
13 SWEGEN ss3014292078 Nov 08, 2017 (151)
14 SWEGEN ss3014292079 Nov 08, 2017 (151)
15 SWEGEN ss3014292080 Nov 08, 2017 (151)
16 MCHAISSO ss3063842415 Nov 08, 2017 (151)
17 MCHAISSO ss3065617154 Nov 08, 2017 (151)
18 EGCUT_WGS ss3681379497 Jul 13, 2019 (153)
19 EVA_DECODE ss3699093080 Jul 13, 2019 (153)
20 EVA_DECODE ss3699093081 Jul 13, 2019 (153)
21 EVA_DECODE ss3699093082 Jul 13, 2019 (153)
22 EVA_DECODE ss3699093083 Jul 13, 2019 (153)
23 EVA_DECODE ss3699093084 Jul 13, 2019 (153)
24 ACPOP ss3741448460 Jul 13, 2019 (153)
25 ACPOP ss3741448461 Jul 13, 2019 (153)
26 EVA ss3834538417 Apr 27, 2020 (154)
27 EVA ss3846367340 Apr 27, 2020 (154)
28 KOGIC ss3977350567 Apr 27, 2020 (154)
29 KOGIC ss3977350568 Apr 27, 2020 (154)
30 KOGIC ss3977350569 Apr 27, 2020 (154)
31 GNOMAD ss4299090710 Apr 27, 2021 (155)
32 GNOMAD ss4299090711 Apr 27, 2021 (155)
33 GNOMAD ss4299090712 Apr 27, 2021 (155)
34 GNOMAD ss4299090713 Apr 27, 2021 (155)
35 GNOMAD ss4299090714 Apr 27, 2021 (155)
36 GNOMAD ss4299090715 Apr 27, 2021 (155)
37 GNOMAD ss4299090719 Apr 27, 2021 (155)
38 TOMMO_GENOMICS ss5219058583 Apr 27, 2021 (155)
39 TOMMO_GENOMICS ss5219058584 Apr 27, 2021 (155)
40 TOMMO_GENOMICS ss5219058585 Apr 27, 2021 (155)
41 TOMMO_GENOMICS ss5219058586 Apr 27, 2021 (155)
42 1000G_HIGH_COVERAGE ss5300601668 Oct 16, 2022 (156)
43 1000G_HIGH_COVERAGE ss5300601669 Oct 16, 2022 (156)
44 1000G_HIGH_COVERAGE ss5300601670 Oct 16, 2022 (156)
45 1000G_HIGH_COVERAGE ss5300601671 Oct 16, 2022 (156)
46 HUGCELL_USP ss5494048732 Oct 16, 2022 (156)
47 HUGCELL_USP ss5494048733 Oct 16, 2022 (156)
48 HUGCELL_USP ss5494048734 Oct 16, 2022 (156)
49 HUGCELL_USP ss5494048735 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5773722627 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5773722628 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5773722629 Oct 16, 2022 (156)
53 TOMMO_GENOMICS ss5773722630 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5773722631 Oct 16, 2022 (156)
55 EVA ss5851542857 Oct 16, 2022 (156)
56 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 38327407 (NC_000016.9:27282870::CGCGCG 946/3854)
Row 38327408 (NC_000016.9:27282870::CGCGCGCG 418/3854)

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

Submission ignored due to conflicting rows:
Row 38327407 (NC_000016.9:27282870::CGCGCG 946/3854)
Row 38327408 (NC_000016.9:27282870::CGCGCGCG 418/3854)

- Oct 12, 2018 (152)
58 Genetic variation in the Estonian population NC_000016.9 - 27282871 Oct 12, 2018 (152)
59 The Danish reference pan genome NC_000016.9 - 27282871 Apr 27, 2020 (154)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 486576394 (NC_000016.10:27271549::CG 29/125042)
Row 486576395 (NC_000016.10:27271549::CGCG 211/125016)
Row 486576396 (NC_000016.10:27271549::CGCGCG 15561/124606)...

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

Submission ignored due to conflicting rows:
Row 486576394 (NC_000016.10:27271549::CG 29/125042)
Row 486576395 (NC_000016.10:27271549::CGCG 211/125016)
Row 486576396 (NC_000016.10:27271549::CGCGCG 15561/124606)...

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

Submission ignored due to conflicting rows:
Row 486576394 (NC_000016.10:27271549::CG 29/125042)
Row 486576395 (NC_000016.10:27271549::CGCG 211/125016)
Row 486576396 (NC_000016.10:27271549::CGCGCG 15561/124606)...

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

Submission ignored due to conflicting rows:
Row 486576394 (NC_000016.10:27271549::CG 29/125042)
Row 486576395 (NC_000016.10:27271549::CGCG 211/125016)
Row 486576396 (NC_000016.10:27271549::CGCGCG 15561/124606)...

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

Submission ignored due to conflicting rows:
Row 486576394 (NC_000016.10:27271549::CG 29/125042)
Row 486576395 (NC_000016.10:27271549::CGCG 211/125016)
Row 486576396 (NC_000016.10:27271549::CGCGCG 15561/124606)...

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

Submission ignored due to conflicting rows:
Row 486576394 (NC_000016.10:27271549::CG 29/125042)
Row 486576395 (NC_000016.10:27271549::CGCG 211/125016)
Row 486576396 (NC_000016.10:27271549::CGCGCG 15561/124606)...

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

Submission ignored due to conflicting rows:
Row 486576394 (NC_000016.10:27271549::CG 29/125042)
Row 486576395 (NC_000016.10:27271549::CGCG 211/125016)
Row 486576396 (NC_000016.10:27271549::CGCGCG 15561/124606)...

- Apr 27, 2021 (155)
67 Korean Genome Project

Submission ignored due to conflicting rows:
Row 33728568 (NC_000016.10:27271549::CGCGCG 157/1832)
Row 33728569 (NC_000016.10:27271549::CGCGCGCG 4/1832)
Row 33728570 (NC_000016.10:27271549::CGCGCGCGCG 1/1832)

- Apr 27, 2020 (154)
68 Korean Genome Project

Submission ignored due to conflicting rows:
Row 33728568 (NC_000016.10:27271549::CGCGCG 157/1832)
Row 33728569 (NC_000016.10:27271549::CGCGCGCG 4/1832)
Row 33728570 (NC_000016.10:27271549::CGCGCGCGCG 1/1832)

- Apr 27, 2020 (154)
69 Korean Genome Project

Submission ignored due to conflicting rows:
Row 33728568 (NC_000016.10:27271549::CGCGCG 157/1832)
Row 33728569 (NC_000016.10:27271549::CGCGCGCG 4/1832)
Row 33728570 (NC_000016.10:27271549::CGCGCGCGCG 1/1832)

- Apr 27, 2020 (154)
70 Northern Sweden

Submission ignored due to conflicting rows:
Row 14733325 (NC_000016.9:27282870::CGCGCG 70/598)
Row 14733326 (NC_000016.9:27282870::CGCGCGCG 4/598)

- Jul 13, 2019 (153)
71 Northern Sweden

Submission ignored due to conflicting rows:
Row 14733325 (NC_000016.9:27282870::CGCGCG 70/598)
Row 14733326 (NC_000016.9:27282870::CGCGCGCG 4/598)

- Jul 13, 2019 (153)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 77027890 (NC_000016.9:27282870::CGCGCG 1572/16730)
Row 77027891 (NC_000016.9:27282870::CGCGCGCG 29/16730)
Row 77027892 (NC_000016.9:27282870:CG: 1/16730)...

- Apr 27, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 77027890 (NC_000016.9:27282870::CGCGCG 1572/16730)
Row 77027891 (NC_000016.9:27282870::CGCGCGCG 29/16730)
Row 77027892 (NC_000016.9:27282870:CG: 1/16730)...

- Apr 27, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 77027890 (NC_000016.9:27282870::CGCGCG 1572/16730)
Row 77027891 (NC_000016.9:27282870::CGCGCGCG 29/16730)
Row 77027892 (NC_000016.9:27282870:CG: 1/16730)...

- Apr 27, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 77027890 (NC_000016.9:27282870::CGCGCG 1572/16730)
Row 77027891 (NC_000016.9:27282870::CGCGCGCG 29/16730)
Row 77027892 (NC_000016.9:27282870:CG: 1/16730)...

- Apr 27, 2021 (155)
76 14KJPN

Submission ignored due to conflicting rows:
Row 107559731 (NC_000016.10:27271549::CGCGCG 2648/28258)
Row 107559732 (NC_000016.10:27271549::CG 8/28258)
Row 107559733 (NC_000016.10:27271549::CGCGCGCG 44/28258)...

- Oct 16, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 107559731 (NC_000016.10:27271549::CGCGCG 2648/28258)
Row 107559732 (NC_000016.10:27271549::CG 8/28258)
Row 107559733 (NC_000016.10:27271549::CGCGCGCG 44/28258)...

- Oct 16, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 107559731 (NC_000016.10:27271549::CGCGCG 2648/28258)
Row 107559732 (NC_000016.10:27271549::CG 8/28258)
Row 107559733 (NC_000016.10:27271549::CGCGCGCG 44/28258)...

- Oct 16, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 107559731 (NC_000016.10:27271549::CGCGCG 2648/28258)
Row 107559732 (NC_000016.10:27271549::CG 8/28258)
Row 107559733 (NC_000016.10:27271549::CGCGCGCG 44/28258)...

- Oct 16, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 107559731 (NC_000016.10:27271549::CGCGCG 2648/28258)
Row 107559732 (NC_000016.10:27271549::CG 8/28258)
Row 107559733 (NC_000016.10:27271549::CGCGCGCG 44/28258)...

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

Submission ignored due to conflicting rows:
Row 38327407 (NC_000016.9:27282870::CGCGCG 970/3708)
Row 38327408 (NC_000016.9:27282870::CGCGCGCG 363/3708)

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

Submission ignored due to conflicting rows:
Row 38327407 (NC_000016.9:27282870::CGCGCG 970/3708)
Row 38327408 (NC_000016.9:27282870::CGCGCGCG 363/3708)

- Oct 12, 2018 (152)
83 ALFA NC_000016.10 - 27271550 Apr 27, 2021 (155)
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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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5219058585 NC_000016.9:27282870:CG: NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGC

(self)
ss3699093084, ss4299090719, ss5773722630 NC_000016.10:27271549:CG: NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGC

(self)
13049128192 NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGC

NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGC

(self)
ss3014292080 NC_000016.9:27282870::CG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGC

(self)
ss4299090710, ss5494048733, ss5773722628 NC_000016.10:27271549::CG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGC

(self)
13049128192 NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGC

NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGC

(self)
ss3699093083 NC_000016.10:27271551::CG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGC

(self)
ss666667902 NC_000016.9:27282870::CGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGC

(self)
ss4299090711, ss5300601671, ss5494048732 NC_000016.10:27271549::CGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGC

(self)
13049128192 NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGC

NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGC

(self)
ss3699093082 NC_000016.10:27271551::CGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGC

(self)
ss327725893, ss327846721, ss328190882, ss552803758, ss553595050 NC_000016.8:27190371::CGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC

(self)
27117745, 523766, ss1574944883, ss1708514495, ss1708514817, ss2031299615, ss3014292078, ss3681379497, ss3741448460, ss3834538417, ss5219058583 NC_000016.9:27282870::CGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC

(self)
ss3063842415, ss3065617154, ss3846367340, ss3977350567, ss4299090712, ss5300601668, ss5494048734, ss5773722627, ss5851542857 NC_000016.10:27271549::CGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC

(self)
13049128192 NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC

NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC

(self)
ss3699093081 NC_000016.10:27271551::CGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC

(self)
ss1708514497, ss1708514821, ss3014292079, ss3741448461, ss5219058584 NC_000016.9:27282870::CGCGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC

(self)
ss3977350568, ss4299090713, ss5300601669, ss5494048735, ss5773722629 NC_000016.10:27271549::CGCGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC

(self)
13049128192 NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC

NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC

(self)
ss3699093080 NC_000016.10:27271551::CGCGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC

(self)
ss5219058586 NC_000016.9:27282870::CGCGCGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC

(self)
ss3977350569, ss4299090714, ss5300601670, ss5773722631 NC_000016.10:27271549::CGCGCGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC

(self)
13049128192 NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC

NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC

(self)
ss4299090715 NC_000016.10:27271549::CGCGCGCGCGCG NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC

(self)
13049128192 NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC

NC_000016.10:27271549:CGCGCGCGCGC:…

NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC

(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 rs146988397

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