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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.

rs1411695091

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:81721244-81721257 (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
delAA / delA / dupA / dupAA / dupA…

delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10

Variation Type
Indel Insertion and Deletion
Frequency
delAA=0.00000 (0/11780, ALFA)
delA=0.00000 (0/11780, ALFA)
dupA=0.00000 (0/11780, ALFA) (+ 7 more)
dupAA=0.00000 (0/11780, ALFA)
dupAAA=0.00000 (0/11780, ALFA)
dup(A)4=0.00000 (0/11780, ALFA)
dup(A)5=0.00000 (0/11780, ALFA)
dup(A)8=0.00000 (0/11780, ALFA)
dup(A)9=0.00000 (0/11780, ALFA)
dup(A)10=0.00000 (0/11780, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GBE1 : 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 11780 AAAAAAAAAAAAAA=1.00000 AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAA=0.00000 1.0 0.0 0.0 N/A
European Sub 7594 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2768 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African American Sub 2660 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 608 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 462 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 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
Allele Frequency Aggregator Total Global 11780 (A)14=1.00000 delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000, dupAAA=0.00000, dup(A)4=0.00000, dup(A)5=0.00000, dup(A)8=0.00000, dup(A)9=0.00000, dup(A)10=0.00000
Allele Frequency Aggregator European Sub 7594 (A)14=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)8=0.0000, dup(A)9=0.0000, dup(A)10=0.0000
Allele Frequency Aggregator African Sub 2768 (A)14=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)8=0.0000, dup(A)9=0.0000, dup(A)10=0.0000
Allele Frequency Aggregator Latin American 2 Sub 608 (A)14=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)10=0.000
Allele Frequency Aggregator Other Sub 462 (A)14=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)10=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (A)14=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)10=0.000
Allele Frequency Aggregator Asian Sub 108 (A)14=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)10=0.000
Allele Frequency Aggregator South Asian Sub 94 (A)14=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)10=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 3 NC_000003.12:g.81721256_81721257del
GRCh38.p14 chr 3 NC_000003.12:g.81721257del
GRCh38.p14 chr 3 NC_000003.12:g.81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721256_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721255_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721254_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721253_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721252_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721251_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721250_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721249_81721257dup
GRCh38.p14 chr 3 NC_000003.12:g.81721248_81721257dup
GRCh37.p13 chr 3 NC_000003.11:g.81770407_81770408del
GRCh37.p13 chr 3 NC_000003.11:g.81770408del
GRCh37.p13 chr 3 NC_000003.11:g.81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770407_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770406_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770405_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770404_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770403_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770402_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770401_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770400_81770408dup
GRCh37.p13 chr 3 NC_000003.11:g.81770399_81770408dup
GBE1 RefSeqGene NG_011810.1:g.45556_45557del
GBE1 RefSeqGene NG_011810.1:g.45557del
GBE1 RefSeqGene NG_011810.1:g.45557dup
GBE1 RefSeqGene NG_011810.1:g.45556_45557dup
GBE1 RefSeqGene NG_011810.1:g.45555_45557dup
GBE1 RefSeqGene NG_011810.1:g.45554_45557dup
GBE1 RefSeqGene NG_011810.1:g.45553_45557dup
GBE1 RefSeqGene NG_011810.1:g.45552_45557dup
GBE1 RefSeqGene NG_011810.1:g.45551_45557dup
GBE1 RefSeqGene NG_011810.1:g.45550_45557dup
GBE1 RefSeqGene NG_011810.1:g.45549_45557dup
GBE1 RefSeqGene NG_011810.1:g.45548_45557dup
Gene: GBE1, 1,4-alpha-glucan branching enzyme 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GBE1 transcript NM_000158.4:c.144-15632_1…

NM_000158.4:c.144-15632_144-15631del

N/A Intron Variant
GBE1 transcript variant X1 XR_007095662.1: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)14= delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10
GRCh38.p14 chr 3 NC_000003.12:g.81721244_81721257= NC_000003.12:g.81721256_81721257del NC_000003.12:g.81721257del NC_000003.12:g.81721257dup NC_000003.12:g.81721256_81721257dup NC_000003.12:g.81721255_81721257dup NC_000003.12:g.81721254_81721257dup NC_000003.12:g.81721253_81721257dup NC_000003.12:g.81721252_81721257dup NC_000003.12:g.81721251_81721257dup NC_000003.12:g.81721250_81721257dup NC_000003.12:g.81721249_81721257dup NC_000003.12:g.81721248_81721257dup
GRCh37.p13 chr 3 NC_000003.11:g.81770395_81770408= NC_000003.11:g.81770407_81770408del NC_000003.11:g.81770408del NC_000003.11:g.81770408dup NC_000003.11:g.81770407_81770408dup NC_000003.11:g.81770406_81770408dup NC_000003.11:g.81770405_81770408dup NC_000003.11:g.81770404_81770408dup NC_000003.11:g.81770403_81770408dup NC_000003.11:g.81770402_81770408dup NC_000003.11:g.81770401_81770408dup NC_000003.11:g.81770400_81770408dup NC_000003.11:g.81770399_81770408dup
GBE1 RefSeqGene NG_011810.1:g.45544_45557= NG_011810.1:g.45556_45557del NG_011810.1:g.45557del NG_011810.1:g.45557dup NG_011810.1:g.45556_45557dup NG_011810.1:g.45555_45557dup NG_011810.1:g.45554_45557dup NG_011810.1:g.45553_45557dup NG_011810.1:g.45552_45557dup NG_011810.1:g.45551_45557dup NG_011810.1:g.45550_45557dup NG_011810.1:g.45549_45557dup NG_011810.1:g.45548_45557dup
GBE1 transcript NM_000158.3:c.144-15631= NM_000158.3:c.144-15632_144-15631del NM_000158.3:c.144-15631del NM_000158.3:c.144-15631dup NM_000158.3:c.144-15632_144-15631dup NM_000158.3:c.144-15633_144-15631dup NM_000158.3:c.144-15634_144-15631dup NM_000158.3:c.144-15635_144-15631dup NM_000158.3:c.144-15636_144-15631dup NM_000158.3:c.144-15637_144-15631dup NM_000158.3:c.144-15638_144-15631dup NM_000158.3:c.144-15639_144-15631dup NM_000158.3:c.144-15640_144-15631dup
GBE1 transcript NM_000158.4:c.144-15631= NM_000158.4:c.144-15632_144-15631del NM_000158.4:c.144-15631del NM_000158.4:c.144-15631dup NM_000158.4:c.144-15632_144-15631dup NM_000158.4:c.144-15633_144-15631dup NM_000158.4:c.144-15634_144-15631dup NM_000158.4:c.144-15635_144-15631dup NM_000158.4:c.144-15636_144-15631dup NM_000158.4:c.144-15637_144-15631dup NM_000158.4:c.144-15638_144-15631dup NM_000158.4:c.144-15639_144-15631dup NM_000158.4:c.144-15640_144-15631dup
GBE1 transcript variant X1 XM_005264728.1:c.21-15631= XM_005264728.1:c.21-15632_21-15631del XM_005264728.1:c.21-15631del XM_005264728.1:c.21-15631dup XM_005264728.1:c.21-15632_21-15631dup XM_005264728.1:c.21-15633_21-15631dup XM_005264728.1:c.21-15634_21-15631dup XM_005264728.1:c.21-15635_21-15631dup XM_005264728.1:c.21-15636_21-15631dup XM_005264728.1:c.21-15637_21-15631dup XM_005264728.1:c.21-15638_21-15631dup XM_005264728.1:c.21-15639_21-15631dup XM_005264728.1:c.21-15640_21-15631dup
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#.

17 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss99107011 Oct 12, 2018 (152)
2 SWEGEN ss2992660310 Nov 08, 2017 (151)
3 GNOMAD ss4074867314 Apr 26, 2021 (155)
4 GNOMAD ss4074867315 Apr 26, 2021 (155)
5 GNOMAD ss4074867316 Apr 26, 2021 (155)
6 GNOMAD ss4074867317 Apr 26, 2021 (155)
7 GNOMAD ss4074867318 Apr 26, 2021 (155)
8 GNOMAD ss4074867319 Apr 26, 2021 (155)
9 GNOMAD ss4074867320 Apr 26, 2021 (155)
10 GNOMAD ss4074867322 Apr 26, 2021 (155)
11 TOMMO_GENOMICS ss5160102723 Apr 26, 2021 (155)
12 TOMMO_GENOMICS ss5160102724 Apr 26, 2021 (155)
13 HUGCELL_USP ss5454132046 Oct 12, 2022 (156)
14 HUGCELL_USP ss5454132047 Oct 12, 2022 (156)
15 HUGCELL_USP ss5454132048 Oct 12, 2022 (156)
16 TOMMO_GENOMICS ss5692055206 Oct 12, 2022 (156)
17 TOMMO_GENOMICS ss5692055207 Oct 12, 2022 (156)
18 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

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

Submission ignored due to conflicting rows:
Row 113979024 (NC_000003.12:81721243::A 183/52160)
Row 113979025 (NC_000003.12:81721243::AAA 6/52170)
Row 113979026 (NC_000003.12:81721243::AAAA 108/52140)...

- Apr 26, 2021 (155)
27 8.3KJPN

Submission ignored due to conflicting rows:
Row 18072030 (NC_000003.11:81770394:A: 27/12524)
Row 18072031 (NC_000003.11:81770394::A 8/12524)

- Apr 26, 2021 (155)
28 8.3KJPN

Submission ignored due to conflicting rows:
Row 18072030 (NC_000003.11:81770394:A: 27/12524)
Row 18072031 (NC_000003.11:81770394::A 8/12524)

- Apr 26, 2021 (155)
29 14KJPN

Submission ignored due to conflicting rows:
Row 25892310 (NC_000003.12:81721243:A: 30/25774)
Row 25892311 (NC_000003.12:81721243::A 14/25774)

- Oct 12, 2022 (156)
30 14KJPN

Submission ignored due to conflicting rows:
Row 25892310 (NC_000003.12:81721243:A: 30/25774)
Row 25892311 (NC_000003.12:81721243::A 14/25774)

- Oct 12, 2022 (156)
31 ALFA NC_000003.12 - 81721244 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4074867322 NC_000003.12:81721243:AA: NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss2992660310, ss5160102723 NC_000003.11:81770394:A: NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss5454132046, ss5692055206 NC_000003.12:81721243:A: NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss99107011 NT_022459.15:15500137:AG:G NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss5160102724 NC_000003.11:81770394::A NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4074867314, ss5454132047, ss5692055207 NC_000003.12:81721243::A NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4074867315 NC_000003.12:81721243::AAA NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4074867316, ss5454132048 NC_000003.12:81721243::AAAA NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4074867317 NC_000003.12:81721243::AAAAA NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4074867318 NC_000003.12:81721243::AAAAAA NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4074867319 NC_000003.12:81721243::AAAAAAA NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4074867320 NC_000003.12:81721243::AAAAAAAAAA NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
1349561464 NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:81721243:AAAAAAAAAAAA…

NC_000003.12:81721243:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(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 rs1411695091

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