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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.

rs1491588239

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:14217661-14217666 (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
insG(A)8 / insT(A)22
Variation Type
Indel Insertion and Deletion
Frequency
insG(A)8=0.000004 (1/264690, TOPMED)
insG(A)8=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NFIB : 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 AAAAAA=1.00000 AAAAAAGAAAAAAAA=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 AAAAAA=1.0000 AAAAAAGAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 AAAAAA=1.0000 AAAAAAGAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 AAAAAA=1.000 AAAAAAGAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 AAAAAA=1.0000 AAAAAAGAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 AAAAAA=1.000 AAAAAAGAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 AAAAAA=1.00 AAAAAAGAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAA=1.00 AAAAAAGAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 AAAAAA=1.000 AAAAAAGAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 AAAAAA=1.000 AAAAAAGAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 AAAAAA=1.00 AAAAAAGAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 470 AAAAAA=1.000 AAAAAAGAAAAAAAA=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
TopMed Global Study-wide 264690 -

No frequency provided

insG(A)8=0.000004
Allele Frequency Aggregator Total Global 11862 (A)6=1.00000 insG(A)8=0.00000
Allele Frequency Aggregator European Sub 7618 (A)6=1.0000 insG(A)8=0.0000
Allele Frequency Aggregator African Sub 2816 (A)6=1.0000 insG(A)8=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (A)6=1.000 insG(A)8=0.000
Allele Frequency Aggregator Other Sub 470 (A)6=1.000 insG(A)8=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (A)6=1.000 insG(A)8=0.000
Allele Frequency Aggregator Asian Sub 108 (A)6=1.000 insG(A)8=0.000
Allele Frequency Aggregator South Asian Sub 94 (A)6=1.00 insG(A)8=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 9 NC_000009.12:g.14217661_14217666A[6]GAAAAAAAA[1]
GRCh38.p14 chr 9 NC_000009.12:g.14217661_14217666A[6]TAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 9 NC_000009.11:g.14217660_14217665A[6]GAAAAAAAA[1]
GRCh37.p13 chr 9 NC_000009.11:g.14217660_14217665A[6]TAAAAAAAAAAAAAAAAAAAAAA[1]
Gene: NFIB, nuclear factor I B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NFIB transcript variant 1 NM_001190737.2:c.563-3788…

NM_001190737.2:c.563-37881_563-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 2 NM_001190738.2:c.641-3788…

NM_001190738.2:c.641-37881_641-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 5 NM_001369458.1:c.629-3788…

NM_001369458.1:c.629-37881_629-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 6 NM_001369459.1:c.629-3788…

NM_001369459.1:c.629-37881_629-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 7 NM_001369460.1:c.551-3788…

NM_001369460.1:c.551-37881_551-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 8 NM_001369461.1:c.563-3788…

NM_001369461.1:c.563-37881_563-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 9 NM_001369462.1:c.629-3788…

NM_001369462.1:c.629-37881_629-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 10 NM_001369463.1:c.551-3788…

NM_001369463.1:c.551-37881_551-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 11 NM_001369464.1:c.563-3788…

NM_001369464.1:c.563-37881_563-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 12 NM_001369465.1:c.536-3788…

NM_001369465.1:c.536-37881_536-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 13 NM_001369466.1:c.551-3788…

NM_001369466.1:c.551-37881_551-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 14 NM_001369467.1:c.536-3788…

NM_001369467.1:c.536-37881_536-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 15 NM_001369468.1:c.629-3788…

NM_001369468.1:c.629-37881_629-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 16 NM_001369469.1:c.419-3788…

NM_001369469.1:c.419-37881_419-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 17 NM_001369470.1:c.326-3788…

NM_001369470.1:c.326-37881_326-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 18 NM_001369471.1:c.563-3788…

NM_001369471.1:c.563-37881_563-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 19 NM_001369472.1:c.551-3788…

NM_001369472.1:c.551-37881_551-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 20 NM_001369473.1:c.551-3788…

NM_001369473.1:c.551-37881_551-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 21 NM_001369474.1:c.548-3788…

NM_001369474.1:c.548-37881_548-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 22 NM_001369475.1:c.338-3788…

NM_001369475.1:c.338-37881_338-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 23 NM_001369476.1:c.536-3788…

NM_001369476.1:c.536-37881_536-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 24 NM_001369477.1:c.563-6176…

NM_001369477.1:c.563-61768_563-61767insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 25 NM_001369478.1:c.326-3788…

NM_001369478.1:c.326-37881_326-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 26 NM_001369479.1:c.26-37881…

NM_001369479.1:c.26-37881_26-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 27 NM_001369480.1:c.26-37881…

NM_001369480.1:c.26-37881_26-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 3 NM_005596.3:c.563-37881_5…

NM_005596.3:c.563-37881_563-37880insTTTTTTTTC

N/A Intron Variant
NFIB transcript variant 4 NM_001282787.2:c. N/A Genic Upstream Transcript Variant
NFIB transcript variant 28 NM_001369481.1:c. N/A Genic Downstream Transcript Variant
NFIB transcript variant 29 NR_161382.1:n. N/A Intron Variant
NFIB transcript variant 30 NR_161383.1:n. N/A Intron Variant
NFIB transcript variant 31 NR_161384.1:n. N/A Intron Variant
NFIB transcript variant 32 NR_161385.1:n. N/A Genic Upstream Transcript 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)6= insG(A)8 insT(A)22
GRCh38.p14 chr 9 NC_000009.12:g.14217661_14217666= NC_000009.12:g.14217661_14217666A[6]GAAAAAAAA[1] NC_000009.12:g.14217661_14217666A[6]TAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 9 NC_000009.11:g.14217660_14217665= NC_000009.11:g.14217660_14217665A[6]GAAAAAAAA[1] NC_000009.11:g.14217660_14217665A[6]TAAAAAAAAAAAAAAAAAAAAAA[1]
NFIB transcript variant 1 NM_001190737.1:c.563-37881= NM_001190737.1:c.563-37881_563-37880insTTTTTTTTC NM_001190737.1:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 1 NM_001190737.2:c.563-37881= NM_001190737.2:c.563-37881_563-37880insTTTTTTTTC NM_001190737.2:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 2 NM_001190738.1:c.641-37881= NM_001190738.1:c.641-37881_641-37880insTTTTTTTTC NM_001190738.1:c.641-37881_641-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 2 NM_001190738.2:c.641-37881= NM_001190738.2:c.641-37881_641-37880insTTTTTTTTC NM_001190738.2:c.641-37881_641-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 5 NM_001369458.1:c.629-37881= NM_001369458.1:c.629-37881_629-37880insTTTTTTTTC NM_001369458.1:c.629-37881_629-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 6 NM_001369459.1:c.629-37881= NM_001369459.1:c.629-37881_629-37880insTTTTTTTTC NM_001369459.1:c.629-37881_629-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 7 NM_001369460.1:c.551-37881= NM_001369460.1:c.551-37881_551-37880insTTTTTTTTC NM_001369460.1:c.551-37881_551-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 8 NM_001369461.1:c.563-37881= NM_001369461.1:c.563-37881_563-37880insTTTTTTTTC NM_001369461.1:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 9 NM_001369462.1:c.629-37881= NM_001369462.1:c.629-37881_629-37880insTTTTTTTTC NM_001369462.1:c.629-37881_629-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 10 NM_001369463.1:c.551-37881= NM_001369463.1:c.551-37881_551-37880insTTTTTTTTC NM_001369463.1:c.551-37881_551-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 11 NM_001369464.1:c.563-37881= NM_001369464.1:c.563-37881_563-37880insTTTTTTTTC NM_001369464.1:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 12 NM_001369465.1:c.536-37881= NM_001369465.1:c.536-37881_536-37880insTTTTTTTTC NM_001369465.1:c.536-37881_536-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 13 NM_001369466.1:c.551-37881= NM_001369466.1:c.551-37881_551-37880insTTTTTTTTC NM_001369466.1:c.551-37881_551-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 14 NM_001369467.1:c.536-37881= NM_001369467.1:c.536-37881_536-37880insTTTTTTTTC NM_001369467.1:c.536-37881_536-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 15 NM_001369468.1:c.629-37881= NM_001369468.1:c.629-37881_629-37880insTTTTTTTTC NM_001369468.1:c.629-37881_629-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 16 NM_001369469.1:c.419-37881= NM_001369469.1:c.419-37881_419-37880insTTTTTTTTC NM_001369469.1:c.419-37881_419-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 17 NM_001369470.1:c.326-37881= NM_001369470.1:c.326-37881_326-37880insTTTTTTTTC NM_001369470.1:c.326-37881_326-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 18 NM_001369471.1:c.563-37881= NM_001369471.1:c.563-37881_563-37880insTTTTTTTTC NM_001369471.1:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 19 NM_001369472.1:c.551-37881= NM_001369472.1:c.551-37881_551-37880insTTTTTTTTC NM_001369472.1:c.551-37881_551-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 20 NM_001369473.1:c.551-37881= NM_001369473.1:c.551-37881_551-37880insTTTTTTTTC NM_001369473.1:c.551-37881_551-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 21 NM_001369474.1:c.548-37881= NM_001369474.1:c.548-37881_548-37880insTTTTTTTTC NM_001369474.1:c.548-37881_548-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 22 NM_001369475.1:c.338-37881= NM_001369475.1:c.338-37881_338-37880insTTTTTTTTC NM_001369475.1:c.338-37881_338-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 23 NM_001369476.1:c.536-37881= NM_001369476.1:c.536-37881_536-37880insTTTTTTTTC NM_001369476.1:c.536-37881_536-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 24 NM_001369477.1:c.563-61768= NM_001369477.1:c.563-61768_563-61767insTTTTTTTTC NM_001369477.1:c.563-61768_563-61767insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 25 NM_001369478.1:c.326-37881= NM_001369478.1:c.326-37881_326-37880insTTTTTTTTC NM_001369478.1:c.326-37881_326-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 26 NM_001369479.1:c.26-37881= NM_001369479.1:c.26-37881_26-37880insTTTTTTTTC NM_001369479.1:c.26-37881_26-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 27 NM_001369480.1:c.26-37881= NM_001369480.1:c.26-37881_26-37880insTTTTTTTTC NM_001369480.1:c.26-37881_26-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant 3 NM_005596.3:c.563-37881= NM_005596.3:c.563-37881_563-37880insTTTTTTTTC NM_005596.3:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant X1 XM_005251467.1:c.563-37881= XM_005251467.1:c.563-37881_563-37880insTTTTTTTTC XM_005251467.1:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant X2 XM_005251468.1:c.551-37881= XM_005251468.1:c.551-37881_551-37880insTTTTTTTTC XM_005251468.1:c.551-37881_551-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant X4 XM_005251469.1:c.563-37881= XM_005251469.1:c.563-37881_563-37880insTTTTTTTTC XM_005251469.1:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
NFIB transcript variant X7 XM_005251470.1:c.563-37881= XM_005251470.1:c.563-37881_563-37880insTTTTTTTTC XM_005251470.1:c.563-37881_563-37880insTTTTTTTTTTTTTTTTTTTTTTA
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4198072517 Apr 26, 2021 (155)
2 GNOMAD ss4198072518 Apr 26, 2021 (155)
3 TOPMED ss4813639049 Apr 26, 2021 (155)
4 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 318971043 (NC_000009.12:14217660::AAAAAAGAA 1/75436)
Row 318971044 (NC_000009.12:14217660::AAAAAATAAAAAAAAAAAAAAAA 1/75434)

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

Submission ignored due to conflicting rows:
Row 318971043 (NC_000009.12:14217660::AAAAAAGAA 1/75436)
Row 318971044 (NC_000009.12:14217660::AAAAAATAAAAAAAAAAAAAAAA 1/75434)

- Apr 26, 2021 (155)
6 TopMed NC_000009.12 - 14217661 Apr 26, 2021 (155)
7 ALFA NC_000009.12 - 14217661 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
651016610, ss4198072517, ss4813639049 NC_000009.12:14217660::AAAAAAGAA NC_000009.12:14217660:AAAAAA:AAAAA…

NC_000009.12:14217660:AAAAAA:AAAAAAGAAAAAAAA

(self)
7640945633 NC_000009.12:14217660:AAAAAA:AAAAA…

NC_000009.12:14217660:AAAAAA:AAAAAAGAAAAAAAA

NC_000009.12:14217660:AAAAAA:AAAAA…

NC_000009.12:14217660:AAAAAA:AAAAAAGAAAAAAAA

(self)
ss4198072518 NC_000009.12:14217660::AAAAAATAAAA…

NC_000009.12:14217660::AAAAAATAAAAAAAAAAAAAAAA

NC_000009.12:14217660:AAAAAA:AAAAA…

NC_000009.12:14217660:AAAAAA:AAAAAATAAAAAAAAAAAAAAAAAAAAAA

(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 rs1491588239

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