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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.

rs1491462771

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:71798884 (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
insGT / insGTGT / ins(GT)3 / ins(G…

insGT / insGTGT / ins(GT)3 / ins(GT)4 / ins(GT)5 / ins(GT)6

Variation Type
Indel Insertion and Deletion
Frequency
insGT=0.00000 (0/11720, ALFA)
insGTGT=0.00000 (0/11720, ALFA)
ins(GT)3=0.00000 (0/11720, ALFA) (+ 3 more)
ins(GT)4=0.00000 (0/11720, ALFA)
ins(GT)5=0.00000 (0/11720, ALFA)
ins(GT)6=0.00000 (0/11720, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FAM86C1P : Intron Variant
ALG1L9P : 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 11720 T=1.00000 TGT=0.00000, TGTGT=0.00000, TGTGTGT=0.00000, TGTGTGTGT=0.00000, TGTGTGTGTGT=0.00000, TGTGTGTGTGTGT=0.00000 1.0 0.0 0.0 N/A
European Sub 7508 T=1.0000 TGT=0.0000, TGTGT=0.0000, TGTGTGT=0.0000, TGTGTGTGT=0.0000, TGTGTGTGTGT=0.0000, TGTGTGTGTGTGT=0.0000 1.0 0.0 0.0 N/A
African Sub 2804 T=1.0000 TGT=0.0000, TGTGT=0.0000, TGTGTGT=0.0000, TGTGTGTGT=0.0000, TGTGTGTGTGT=0.0000, TGTGTGTGTGTGT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 T=1.000 TGT=0.000, TGTGT=0.000, TGTGTGT=0.000, TGTGTGTGT=0.000, TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=0.000 1.0 0.0 0.0 N/A
African American Sub 2696 T=1.0000 TGT=0.0000, TGTGT=0.0000, TGTGTGT=0.0000, TGTGTGTGT=0.0000, TGTGTGTGTGT=0.0000, TGTGTGTGTGTGT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 106 T=1.000 TGT=0.000, TGTGT=0.000, TGTGTGT=0.000, TGTGTGTGT=0.000, TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 82 T=1.00 TGT=0.00, TGTGT=0.00, TGTGTGT=0.00, TGTGTGTGT=0.00, TGTGTGTGTGT=0.00, TGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 T=1.00 TGT=0.00, TGTGT=0.00, TGTGTGT=0.00, TGTGTGTGT=0.00, TGTGTGTGTGT=0.00, TGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 136 T=1.000 TGT=0.000, TGTGT=0.000, TGTGTGT=0.000, TGTGTGTGT=0.000, TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 608 T=1.000 TGT=0.000, TGTGT=0.000, TGTGTGT=0.000, TGTGTGTGT=0.000, TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 92 T=1.00 TGT=0.00, TGTGT=0.00, TGTGTGT=0.00, TGTGTGTGT=0.00, TGTGTGTGTGT=0.00, TGTGTGTGTGTGT=0.00 1.0 0.0 0.0 N/A
Other Sub 466 T=1.000 TGT=0.000, TGTGT=0.000, TGTGTGT=0.000, TGTGTGTGT=0.000, TGTGTGTGTGT=0.000, TGTGTGTGTGTGT=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 11720 T=1.00000 insGT=0.00000, insGTGT=0.00000, ins(GT)3=0.00000, ins(GT)4=0.00000, ins(GT)5=0.00000, ins(GT)6=0.00000
Allele Frequency Aggregator European Sub 7508 T=1.0000 insGT=0.0000, insGTGT=0.0000, ins(GT)3=0.0000, ins(GT)4=0.0000, ins(GT)5=0.0000, ins(GT)6=0.0000
Allele Frequency Aggregator African Sub 2804 T=1.0000 insGT=0.0000, insGTGT=0.0000, ins(GT)3=0.0000, ins(GT)4=0.0000, ins(GT)5=0.0000, ins(GT)6=0.0000
Allele Frequency Aggregator Latin American 2 Sub 608 T=1.000 insGT=0.000, insGTGT=0.000, ins(GT)3=0.000, ins(GT)4=0.000, ins(GT)5=0.000, ins(GT)6=0.000
Allele Frequency Aggregator Other Sub 466 T=1.000 insGT=0.000, insGTGT=0.000, ins(GT)3=0.000, ins(GT)4=0.000, ins(GT)5=0.000, ins(GT)6=0.000
Allele Frequency Aggregator Latin American 1 Sub 136 T=1.000 insGT=0.000, insGTGT=0.000, ins(GT)3=0.000, ins(GT)4=0.000, ins(GT)5=0.000, ins(GT)6=0.000
Allele Frequency Aggregator Asian Sub 106 T=1.000 insGT=0.000, insGTGT=0.000, ins(GT)3=0.000, ins(GT)4=0.000, ins(GT)5=0.000, ins(GT)6=0.000
Allele Frequency Aggregator South Asian Sub 92 T=1.00 insGT=0.00, insGTGT=0.00, ins(GT)3=0.00, ins(GT)4=0.00, ins(GT)5=0.00, ins(GT)6=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 11 NC_000011.10:g.71798884_71798885insGT
GRCh38.p14 chr 11 NC_000011.10:g.71798884_71798885insGTGT
GRCh38.p14 chr 11 NC_000011.10:g.71798885GT[3]
GRCh38.p14 chr 11 NC_000011.10:g.71798885GT[4]
GRCh38.p14 chr 11 NC_000011.10:g.71798885GT[5]
GRCh38.p14 chr 11 NC_000011.10:g.71798885GT[6]
GRCh37.p13 chr 11 NC_000011.9:g.71509930_71509931insGT
GRCh37.p13 chr 11 NC_000011.9:g.71509930_71509931insGTGT
GRCh37.p13 chr 11 NC_000011.9:g.71509931GT[3]
GRCh37.p13 chr 11 NC_000011.9:g.71509931GT[4]
GRCh37.p13 chr 11 NC_000011.9:g.71509931GT[5]
GRCh37.p13 chr 11 NC_000011.9:g.71509931GT[6]
Gene: ALG1L9P, ALG1 like 9, pseudogene (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ALG1L9P transcript variant 3 NR_073386.1:n. N/A Intron Variant
ALG1L9P transcript variant 1 NR_073388.1:n. N/A Intron Variant
ALG1L9P transcript variant 2 NR_073387.1:n. N/A Genic Downstream Transcript Variant
Gene: FAM86C1P, uncharacterized FAM86C1P (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FAM86C1P transcript XR_004643250.2: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 T= insGT insGTGT ins(GT)3 ins(GT)4 ins(GT)5 ins(GT)6
GRCh38.p14 chr 11 NC_000011.10:g.71798884= NC_000011.10:g.71798884_71798885insGT NC_000011.10:g.71798884_71798885insGTGT NC_000011.10:g.71798885GT[3] NC_000011.10:g.71798885GT[4] NC_000011.10:g.71798885GT[5] NC_000011.10:g.71798885GT[6]
GRCh37.p13 chr 11 NC_000011.9:g.71509930= NC_000011.9:g.71509930_71509931insGT NC_000011.9:g.71509930_71509931insGTGT NC_000011.9:g.71509931GT[3] NC_000011.9:g.71509931GT[4] NC_000011.9:g.71509931GT[5] NC_000011.9:g.71509931GT[6]
FAM86C1 transcript variant 3 NM_001099653.1:c.391-677= NM_001099653.1:c.391-677_391-676insGT NM_001099653.1:c.391-677_391-676insGTGT NM_001099653.1:c.391-677_391-676insGTGTGT NM_001099653.1:c.391-677_391-676insGTGTGTGT NM_001099653.1:c.391-677_391-676insGTGTGTGTGT NM_001099653.1:c.391-677_391-676insGTGTGTGTGTGT
FAM86C1 transcript variant 1 NM_018172.2:c.412-677= NM_018172.2:c.412-677_412-676insGT NM_018172.2:c.412-677_412-676insGTGT NM_018172.2:c.412-677_412-676insGTGTGT NM_018172.2:c.412-677_412-676insGTGTGTGT NM_018172.2:c.412-677_412-676insGTGTGTGTGT NM_018172.2:c.412-677_412-676insGTGTGTGTGTGT
FAM86C1 transcript variant 2 NM_152563.2:c.310-677= NM_152563.2:c.310-677_310-676insGT NM_152563.2:c.310-677_310-676insGTGT NM_152563.2:c.310-677_310-676insGTGTGT NM_152563.2:c.310-677_310-676insGTGTGTGT NM_152563.2:c.310-677_310-676insGTGTGTGTGT NM_152563.2:c.310-677_310-676insGTGTGTGTGTGT
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#.

19 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_DECODE ss3692051684 Jul 13, 2019 (153)
2 ACPOP ss3738292227 Jul 13, 2019 (153)
3 ACPOP ss3738292229 Jul 13, 2019 (153)
4 GNOMAD ss4237538129 Apr 26, 2021 (155)
5 GNOMAD ss4237538130 Apr 26, 2021 (155)
6 GNOMAD ss4237538131 Apr 26, 2021 (155)
7 GNOMAD ss4237538132 Apr 26, 2021 (155)
8 GNOMAD ss4237538133 Apr 26, 2021 (155)
9 GNOMAD ss4237538134 Apr 26, 2021 (155)
10 TOMMO_GENOMICS ss5202615833 Apr 26, 2021 (155)
11 TOMMO_GENOMICS ss5202615835 Apr 26, 2021 (155)
12 TOMMO_GENOMICS ss5202615837 Apr 26, 2021 (155)
13 1000G_HIGH_COVERAGE ss5287906460 Oct 13, 2022 (156)
14 HUGCELL_USP ss5483017447 Oct 13, 2022 (156)
15 HUGCELL_USP ss5483017449 Oct 13, 2022 (156)
16 HUGCELL_USP ss5483017450 Oct 13, 2022 (156)
17 TOMMO_GENOMICS ss5750700923 Oct 13, 2022 (156)
18 TOMMO_GENOMICS ss5750700924 Oct 13, 2022 (156)
19 TOMMO_GENOMICS ss5750700926 Oct 13, 2022 (156)
20 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 383712696 (NC_000011.10:71798883::TG 1018/108546)
Row 383712697 (NC_000011.10:71798883::TGTG 475/108554)
Row 383712698 (NC_000011.10:71798883::TGTGTG 99/108564)...

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

Submission ignored due to conflicting rows:
Row 383712696 (NC_000011.10:71798883::TG 1018/108546)
Row 383712697 (NC_000011.10:71798883::TGTG 475/108554)
Row 383712698 (NC_000011.10:71798883::TGTGTG 99/108564)...

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

Submission ignored due to conflicting rows:
Row 383712696 (NC_000011.10:71798883::TG 1018/108546)
Row 383712697 (NC_000011.10:71798883::TGTG 475/108554)
Row 383712698 (NC_000011.10:71798883::TGTGTG 99/108564)...

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

Submission ignored due to conflicting rows:
Row 383712696 (NC_000011.10:71798883::TG 1018/108546)
Row 383712697 (NC_000011.10:71798883::TGTG 475/108554)
Row 383712698 (NC_000011.10:71798883::TGTGTG 99/108564)...

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

Submission ignored due to conflicting rows:
Row 383712696 (NC_000011.10:71798883::TG 1018/108546)
Row 383712697 (NC_000011.10:71798883::TGTG 475/108554)
Row 383712698 (NC_000011.10:71798883::TGTGTG 99/108564)...

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

Submission ignored due to conflicting rows:
Row 383712696 (NC_000011.10:71798883::TG 1018/108546)
Row 383712697 (NC_000011.10:71798883::TGTG 475/108554)
Row 383712698 (NC_000011.10:71798883::TGTGTG 99/108564)...

- Apr 26, 2021 (155)
26 Northern Sweden

Submission ignored due to conflicting rows:
Row 11577092 (NC_000011.9:71509929::TG 13/596)
Row 11577094 (NC_000011.9:71509929::TGTG 3/596)

- Jul 13, 2019 (153)
27 Northern Sweden

Submission ignored due to conflicting rows:
Row 11577092 (NC_000011.9:71509929::TG 13/596)
Row 11577094 (NC_000011.9:71509929::TGTG 3/596)

- Jul 13, 2019 (153)
28 8.3KJPN

Submission ignored due to conflicting rows:
Row 60585140 (NC_000011.9:71509929::TG 76/16488)
Row 60585142 (NC_000011.9:71509929::TGTG 23/16488)
Row 60585144 (NC_000011.9:71509929::TGTGTGTG 21/16488)

- Apr 26, 2021 (155)
29 8.3KJPN

Submission ignored due to conflicting rows:
Row 60585140 (NC_000011.9:71509929::TG 76/16488)
Row 60585142 (NC_000011.9:71509929::TGTG 23/16488)
Row 60585144 (NC_000011.9:71509929::TGTGTGTG 21/16488)

- Apr 26, 2021 (155)
30 8.3KJPN

Submission ignored due to conflicting rows:
Row 60585140 (NC_000011.9:71509929::TG 76/16488)
Row 60585142 (NC_000011.9:71509929::TGTG 23/16488)
Row 60585144 (NC_000011.9:71509929::TGTGTGTG 21/16488)

- Apr 26, 2021 (155)
31 14KJPN

Submission ignored due to conflicting rows:
Row 84538027 (NC_000011.10:71798883::TGTG 39/28190)
Row 84538028 (NC_000011.10:71798883::TG 92/28190)
Row 84538030 (NC_000011.10:71798883::TGTGTGTG 33/28190)

- Oct 13, 2022 (156)
32 14KJPN

Submission ignored due to conflicting rows:
Row 84538027 (NC_000011.10:71798883::TGTG 39/28190)
Row 84538028 (NC_000011.10:71798883::TG 92/28190)
Row 84538030 (NC_000011.10:71798883::TGTGTGTG 33/28190)

- Oct 13, 2022 (156)
33 14KJPN

Submission ignored due to conflicting rows:
Row 84538027 (NC_000011.10:71798883::TGTG 39/28190)
Row 84538028 (NC_000011.10:71798883::TG 92/28190)
Row 84538030 (NC_000011.10:71798883::TGTGTGTG 33/28190)

- Oct 13, 2022 (156)
34 ALFA NC_000011.10 - 71798884 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
ss3738292227, ss5202615833 NC_000011.9:71509929::TG NC_000011.10:71798883:T:TGT (self)
ss4237538129, ss5287906460, ss5483017449, ss5750700924 NC_000011.10:71798883::TG NC_000011.10:71798883:T:TGT (self)
3346119939 NC_000011.10:71798883:T:TGT NC_000011.10:71798883:T:TGT (self)
ss3692051684 NC_000011.10:71798884::GT NC_000011.10:71798883:T:TGT (self)
ss3738292229, ss5202615835 NC_000011.9:71509929::TGTG NC_000011.10:71798883:T:TGTGT (self)
ss4237538130, ss5483017447, ss5750700923 NC_000011.10:71798883::TGTG NC_000011.10:71798883:T:TGTGT (self)
3346119939 NC_000011.10:71798883:T:TGTGT NC_000011.10:71798883:T:TGTGT (self)
ss4237538131, ss5483017450 NC_000011.10:71798883::TGTGTG NC_000011.10:71798883:T:TGTGTGT (self)
3346119939 NC_000011.10:71798883:T:TGTGTGT NC_000011.10:71798883:T:TGTGTGT (self)
ss5202615837 NC_000011.9:71509929::TGTGTGTG NC_000011.10:71798883:T:TGTGTGTGT (self)
ss4237538132, ss5750700926 NC_000011.10:71798883::TGTGTGTG NC_000011.10:71798883:T:TGTGTGTGT (self)
3346119939 NC_000011.10:71798883:T:TGTGTGTGT NC_000011.10:71798883:T:TGTGTGTGT (self)
ss4237538133 NC_000011.10:71798883::TGTGTGTGTG NC_000011.10:71798883:T:TGTGTGTGTGT (self)
3346119939 NC_000011.10:71798883:T:TGTGTGTGTGT NC_000011.10:71798883:T:TGTGTGTGTGT (self)
ss4237538134 NC_000011.10:71798883::TGTGTGTGTGTG NC_000011.10:71798883:T:TGTGTGTGTG…

NC_000011.10:71798883:T:TGTGTGTGTGTGT

(self)
3346119939 NC_000011.10:71798883:T:TGTGTGTGTG…

NC_000011.10:71798883:T:TGTGTGTGTGTGT

NC_000011.10:71798883:T:TGTGTGTGTG…

NC_000011.10:71798883:T:TGTGTGTGTGTGT

(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 rs1491462771

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