Name: rs1489987983
Published: September 21, 2022
License: Open Access

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.

rs1489987983

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:240681122 (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: C>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.00084 (46/54666, GnomAD)
G=0.00655 (92/14050, ALFA)
G=0.0073 (47/6404, 1000G_30x) (+ 2 more)
C=0.5 (2/4, SGDP_PRJ)
G=0.5 (2/4, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AQP12B : 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	HTRZ	HWEP
Total	Global	14050	C=0.99345	G=0.00655	0.986904	0.013096	0
European	Sub	9690	C=1.0000	G=0.0000	1.0	0.0	N/A
African	Sub	2898	C=0.9714	G=0.0286	0.942719	0.057281	1
African Others	Sub	114	C=0.939	G=0.061	0.877193	0.122807	0
African American	Sub	2784	C=0.9727	G=0.0273	0.945402	0.054598	1
Asian	Sub	112	C=1.000	G=0.000	1.0	0.0	N/A
East Asian	Sub	86	C=1.00	G=0.00	1.0	0.0	N/A
Other Asian	Sub	26	C=1.00	G=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	C=0.993	G=0.007	0.986301	0.013699	0
Latin American 2	Sub	610	C=1.000	G=0.000	1.0	0.0	N/A
South Asian	Sub	98	C=1.00	G=0.00	1.0	0.0	N/A
Other	Sub	496	C=0.984	G=0.016	0.967742	0.032258	0

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	54666	C=0.99916	G=0.00084
gnomAD - Genomes	European	Sub	34900	C=1.00000	G=0.00000
gnomAD - Genomes	African	Sub	11056	C=0.99584	G=0.00416
gnomAD - Genomes	American	Sub	5526	C=1.0000	G=0.0000
gnomAD - Genomes	Ashkenazi Jewish	Sub	1304	C=1.0000	G=0.0000
gnomAD - Genomes	East Asian	Sub	1132	C=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	748	C=1.000	G=0.000
Allele Frequency Aggregator	Total	Global	14050	C=0.99345	G=0.00655
Allele Frequency Aggregator	European	Sub	9690	C=1.0000	G=0.0000
Allele Frequency Aggregator	African	Sub	2898	C=0.9714	G=0.0286
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	G=0.000
Allele Frequency Aggregator	Other	Sub	496	C=0.984	G=0.016
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.993	G=0.007
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	G=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.9927	G=0.0073
1000Genomes_30x	African	Sub	1786	C=0.9737	G=0.0263
1000Genomes_30x	Europe	Sub	1266	C=1.0000	G=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	G=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	C=1.000	G=0.000
SGDP_PRJ	Global	Study-wide	4	C=0.5	G=0.5

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 2	NC_000002.12:g.240681122C>G
GRCh37.p13 chr 2	NC_000002.11:g.241620539C>G

Gene: AQP12B, aquaporin 12B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AQP12B transcript	NM_001102467.2:c.608-654G… NM_001102467.2:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X1	XM_011511673.3:c.608-654G… XM_011511673.3:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X6	XM_011511676.3:c.608-654G… XM_011511676.3:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X8	XM_011511677.3:c.608-654G… XM_011511677.3:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X13	XM_011511678.3:c.608-654G… XM_011511678.3:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X9	XM_017004737.2:c.608-654G… XM_017004737.2:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X2	XM_047445559.1:c.608-654G… XM_047445559.1:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X3	XM_047445560.1:c.608-654G… XM_047445560.1:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X4	XM_047445561.1:c.536-654G… XM_047445561.1:c.536-654G>C	N/A	Intron Variant
AQP12B transcript variant X5	XM_047445562.1:c.608-654G… XM_047445562.1:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X10	XM_047445563.1:c.536-654G… XM_047445563.1:c.536-654G>C	N/A	Intron Variant
AQP12B transcript variant X11	XM_047445564.1:c.608-654G… XM_047445564.1:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X12	XM_047445565.1:c.608-654G… XM_047445565.1:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X14	XM_047445566.1:c.608-654G… XM_047445566.1:c.608-654G>C	N/A	Intron Variant
AQP12B transcript variant X7	XR_922992.3:n.	N/A	Intron Variant
AQP12B transcript variant X15	XR_922998.3:n.	N/A	Intron Variant

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

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	C=	G
GRCh38.p14 chr 2	NC_000002.12:g.240681122=	NC_000002.12:g.240681122C>G
GRCh37.p13 chr 2	NC_000002.11:g.241620539=	NC_000002.11:g.241620539C>G
AQP12B transcript	NM_001102467.1:c.608-654=	NM_001102467.1:c.608-654G>C
AQP12B transcript	NM_001102467.2:c.608-654=	NM_001102467.2:c.608-654G>C
AQP12B transcript variant X1	XM_011511673.3:c.608-654=	XM_011511673.3:c.608-654G>C
AQP12B transcript variant X6	XM_011511676.3:c.608-654=	XM_011511676.3:c.608-654G>C
AQP12B transcript variant X8	XM_011511677.3:c.608-654=	XM_011511677.3:c.608-654G>C
AQP12B transcript variant X13	XM_011511678.3:c.608-654=	XM_011511678.3:c.608-654G>C
AQP12B transcript variant X9	XM_017004737.2:c.608-654=	XM_017004737.2:c.608-654G>C
AQP12B transcript variant X2	XM_047445559.1:c.608-654=	XM_047445559.1:c.608-654G>C
AQP12B transcript variant X3	XM_047445560.1:c.608-654=	XM_047445560.1:c.608-654G>C
AQP12B transcript variant X4	XM_047445561.1:c.536-654=	XM_047445561.1:c.536-654G>C
AQP12B transcript variant X5	XM_047445562.1:c.608-654=	XM_047445562.1:c.608-654G>C
AQP12B transcript variant X10	XM_047445563.1:c.536-654=	XM_047445563.1:c.536-654G>C
AQP12B transcript variant X11	XM_047445564.1:c.608-654=	XM_047445564.1:c.608-654G>C
AQP12B transcript variant X12	XM_047445565.1:c.608-654=	XM_047445565.1:c.608-654G>C
AQP12B transcript variant X14	XM_047445566.1:c.608-654=	XM_047445566.1:c.608-654G>C

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#.

5 SubSNP, 4 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2788322529	Nov 08, 2017 (151)
2	SGDP_PRJ	ss3854977921	Apr 25, 2020 (154)
3	1000G_HIGH_COVERAGE	ss5252662189	Oct 13, 2022 (156)
4	EVA	ss5337191121	Oct 13, 2022 (156)
5	1000G_HIGH_COVERAGE	ss5530308570	Oct 13, 2022 (156)
6	1000Genomes_30x	NC_000002.12 - 240681122	Oct 13, 2022 (156)
7	gnomAD - Genomes	NC_000002.12 - 240681122	Apr 27, 2021 (155)
8	SGDP_PRJ	NC_000002.11 - 241620539	Apr 25, 2020 (154)
9	ALFA	NC_000002.12 - 240681122	Apr 27, 2021 (155)

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
6994901, ss2788322529, ss3854977921, ss5337191121	NC_000002.11:241620538:C:G	NC_000002.12:240681121:C:G	(self)
17834505, 95992184, 13618597497, ss5252662189, ss5530308570	NC_000002.12:240681121:C:G	NC_000002.12:240681121:C:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1489987983

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1489987983