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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.

rs1491294089

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:75951076-75951077 (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
insA / ins(C)7AA / insCCG / insCG …

insA / ins(C)7AA / insCCG / insCG / insT

Variation Type
Insertion
Frequency
ins(C)7AA=0.00002 (1/58878, GnomAD)
insCCG=0.00000 (0/11862, ALFA)
insCG=0.00000 (0/11862, ALFA) (+ 1 more)
insT=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
POR : 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 11862 =1.00000 CCG=0.00000, CG=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 =1.0000 CCG=0.0000, CG=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 =1.0000 CCG=0.0000, CG=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 =1.000 CCG=0.000, CG=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 =1.0000 CCG=0.0000, CG=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 =1.000 CCG=0.000, CG=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 =1.00 CCG=0.00, CG=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 =1.00 CCG=0.00, CG=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 =1.000 CCG=0.000, CG=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 =1.000 CCG=0.000, CG=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 =1.00 CCG=0.00, CG=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 470 =1.000 CCG=0.000, CG=0.000, T=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
gnomAD - Genomes Global Study-wide 58878 -

No frequency provided

ins(C)7AA=0.00002
gnomAD - Genomes European Sub 29110 -

No frequency provided

ins(C)7AA=0.00000
gnomAD - Genomes African Sub 19980 -

No frequency provided

ins(C)7AA=0.00005
gnomAD - Genomes American Sub 5654 -

No frequency provided

ins(C)7AA=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 1686 -

No frequency provided

ins(C)7AA=0.0000
gnomAD - Genomes East Asian Sub 1676 -

No frequency provided

ins(C)7AA=0.0000
gnomAD - Genomes Other Sub 772 -

No frequency provided

ins(C)7AA=0.000
Allele Frequency Aggregator Total Global 11862 -

No frequency provided

insCCG=0.00000, insCG=0.00000, insT=0.00000
Allele Frequency Aggregator European Sub 7618 -

No frequency provided

insCCG=0.0000, insCG=0.0000, insT=0.0000
Allele Frequency Aggregator African Sub 2816 -

No frequency provided

insCCG=0.0000, insCG=0.0000, insT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 -

No frequency provided

insCCG=0.000, insCG=0.000, insT=0.000
Allele Frequency Aggregator Other Sub 470 -

No frequency provided

insCCG=0.000, insCG=0.000, insT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 -

No frequency provided

insCCG=0.000, insCG=0.000, insT=0.000
Allele Frequency Aggregator Asian Sub 108 -

No frequency provided

insCCG=0.000, insCG=0.000, insT=0.000
Allele Frequency Aggregator South Asian Sub 94 -

No frequency provided

insCCG=0.00, insCG=0.00, insT=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 7 NC_000007.14:g.75951076_75951077insA
GRCh38.p14 chr 7 NC_000007.14:g.75951076_75951077insCCCCCCCAA
GRCh38.p14 chr 7 NC_000007.14:g.75951076_75951077insCCG
GRCh38.p14 chr 7 NC_000007.14:g.75951076_75951077insCG
GRCh38.p14 chr 7 NC_000007.14:g.75951076_75951077insT
GRCh37.p13 chr 7 NC_000007.13:g.75580394_75580395insA
GRCh37.p13 chr 7 NC_000007.13:g.75580394_75580395insCCCCCCCAA
GRCh37.p13 chr 7 NC_000007.13:g.75580394_75580395insCCG
GRCh37.p13 chr 7 NC_000007.13:g.75580394_75580395insCG
GRCh37.p13 chr 7 NC_000007.13:g.75580394_75580395insT
POR RefSeqGene NG_008930.1:g.40975_40976insA
POR RefSeqGene NG_008930.1:g.40975_40976insCCCCCCCAA
POR RefSeqGene NG_008930.1:g.40975_40976insCCG
POR RefSeqGene NG_008930.1:g.40975_40976insCG
POR RefSeqGene NG_008930.1:g.40975_40976insT
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3480312_3480313insA
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3480312_3480313insCCCCCCCAA
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3480312_3480313insCCG
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3480312_3480313insCG
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3480312_3480313insT
Gene: POR, cytochrome p450 oxidoreductase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
POR transcript variant 1 NM_001367562.3:c.-13-2913…

NM_001367562.3:c.-13-2913_-13-2912insA

N/A Intron Variant
POR transcript variant 6 NM_001382655.3:c.-13-2913…

NM_001382655.3:c.-13-2913_-13-2912insA

N/A Intron Variant
POR transcript variant 3 NM_001382657.2:c.-13-2913…

NM_001382657.2:c.-13-2913_-13-2912insA

N/A Intron Variant
POR transcript variant 4 NM_001382658.3:c.-13-2913…

NM_001382658.3:c.-13-2913_-13-2912insA

N/A Intron Variant
POR transcript variant 5 NM_001382659.3:c.-13-2913…

NM_001382659.3:c.-13-2913_-13-2912insA

N/A Intron Variant
POR transcript variant 7 NM_001382662.3:c.-13-2913…

NM_001382662.3:c.-13-2913_-13-2912insA

N/A Intron Variant
POR transcript variant 2 NM_001395413.1:c.-13-2913…

NM_001395413.1:c.-13-2913_-13-2912insA

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 = insA ins(C)7AA insCCG insCG insT
GRCh38.p14 chr 7 NC_000007.14:g.75951076_75951077= NC_000007.14:g.75951076_75951077insA NC_000007.14:g.75951076_75951077insCCCCCCCAA NC_000007.14:g.75951076_75951077insCCG NC_000007.14:g.75951076_75951077insCG NC_000007.14:g.75951076_75951077insT
GRCh37.p13 chr 7 NC_000007.13:g.75580394_75580395= NC_000007.13:g.75580394_75580395insA NC_000007.13:g.75580394_75580395insCCCCCCCAA NC_000007.13:g.75580394_75580395insCCG NC_000007.13:g.75580394_75580395insCG NC_000007.13:g.75580394_75580395insT
POR RefSeqGene NG_008930.1:g.40975_40976= NG_008930.1:g.40975_40976insA NG_008930.1:g.40975_40976insCCCCCCCAA NG_008930.1:g.40975_40976insCCG NG_008930.1:g.40975_40976insCG NG_008930.1:g.40975_40976insT
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3480312_3480313= NW_003871064.1:g.3480312_3480313insA NW_003871064.1:g.3480312_3480313insCCCCCCCAA NW_003871064.1:g.3480312_3480313insCCG NW_003871064.1:g.3480312_3480313insCG NW_003871064.1:g.3480312_3480313insT
POR transcript NM_000941.2:c.-4-2912= NM_000941.2:c.-4-2913_-4-2912insA NM_000941.2:c.-4-2913_-4-2912insCCCCCCCAA NM_000941.2:c.-4-2913_-4-2912insCCG NM_000941.2:c.-4-2913_-4-2912insCG NM_000941.2:c.-4-2913_-4-2912insT
POR transcript variant 1 NM_001367562.3:c.-13-2912= NM_001367562.3:c.-13-2913_-13-2912insA NM_001367562.3:c.-13-2913_-13-2912insCCCCCCCAA NM_001367562.3:c.-13-2913_-13-2912insCCG NM_001367562.3:c.-13-2913_-13-2912insCG NM_001367562.3:c.-13-2913_-13-2912insT
POR transcript variant 6 NM_001382655.3:c.-13-2912= NM_001382655.3:c.-13-2913_-13-2912insA NM_001382655.3:c.-13-2913_-13-2912insCCCCCCCAA NM_001382655.3:c.-13-2913_-13-2912insCCG NM_001382655.3:c.-13-2913_-13-2912insCG NM_001382655.3:c.-13-2913_-13-2912insT
POR transcript variant 3 NM_001382657.2:c.-13-2912= NM_001382657.2:c.-13-2913_-13-2912insA NM_001382657.2:c.-13-2913_-13-2912insCCCCCCCAA NM_001382657.2:c.-13-2913_-13-2912insCCG NM_001382657.2:c.-13-2913_-13-2912insCG NM_001382657.2:c.-13-2913_-13-2912insT
POR transcript variant 4 NM_001382658.3:c.-13-2912= NM_001382658.3:c.-13-2913_-13-2912insA NM_001382658.3:c.-13-2913_-13-2912insCCCCCCCAA NM_001382658.3:c.-13-2913_-13-2912insCCG NM_001382658.3:c.-13-2913_-13-2912insCG NM_001382658.3:c.-13-2913_-13-2912insT
POR transcript variant 5 NM_001382659.3:c.-13-2912= NM_001382659.3:c.-13-2913_-13-2912insA NM_001382659.3:c.-13-2913_-13-2912insCCCCCCCAA NM_001382659.3:c.-13-2913_-13-2912insCCG NM_001382659.3:c.-13-2913_-13-2912insCG NM_001382659.3:c.-13-2913_-13-2912insT
POR transcript variant 7 NM_001382662.3:c.-13-2912= NM_001382662.3:c.-13-2913_-13-2912insA NM_001382662.3:c.-13-2913_-13-2912insCCCCCCCAA NM_001382662.3:c.-13-2913_-13-2912insCCG NM_001382662.3:c.-13-2913_-13-2912insCG NM_001382662.3:c.-13-2913_-13-2912insT
POR transcript variant 2 NM_001395413.1:c.-13-2912= NM_001395413.1:c.-13-2913_-13-2912insA NM_001395413.1:c.-13-2913_-13-2912insCCCCCCCAA NM_001395413.1:c.-13-2913_-13-2912insCCG NM_001395413.1:c.-13-2913_-13-2912insCG NM_001395413.1:c.-13-2913_-13-2912insT
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_DECODE ss3719990076 Jul 13, 2019 (153)
2 GNOMAD ss4166442542 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000007.14 - 75951077 Apr 26, 2021 (155)
4 ALFA NC_000007.14 - 75951077 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
ss3719990076 NC_000007.14:75951076::A NC_000007.14:75951076::A (self)
265819289, ss4166442542 NC_000007.14:75951076::CCCCCCCAA NC_000007.14:75951076::CCCCCCCAA (self)
4711240860 NC_000007.14:75951076::CCG NC_000007.14:75951076::CCG (self)
4711240860 NC_000007.14:75951076::CG NC_000007.14:75951076::CG (self)
4711240860 NC_000007.14:75951076::T NC_000007.14:75951076::T (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2464204393 NC_000007.13:75580394::T NC_000007.14:75951076::T
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 rs1491294089

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