Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1464461963

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:158599386 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/264690, TOPMED)
T=0.000004 (1/249190, GnomAD_exome)
T=0.000007 (1/140178, GnomAD) (+ 1 more)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RXFP1 : Missense 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 10680 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 466 C=1.000 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
TopMed Global Study-wide 264690 C=0.999992 T=0.000008
gnomAD - Exomes Global Study-wide 249190 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 134560 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 48566 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34482 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 15484 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6040 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140178 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75916 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42020 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13638 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=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 4 NC_000004.12:g.158599386C>T
GRCh37.p13 chr 4 NC_000004.11:g.159520538C>T
RXFP1 RefSeqGene NG_031835.2:g.82673C>T
Gene: RXFP1, relaxin family peptide receptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RXFP1 transcript variant 6 NM_001253732.2:c.-134= N/A 5 Prime UTR Variant
RXFP1 transcript variant 5 NM_001253730.2:c.-44= N/A 5 Prime UTR Variant
RXFP1 transcript variant 7 NM_001253733.2:c.-134= N/A 5 Prime UTR Variant
RXFP1 transcript variant 14 NM_001363776.1:c.104C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform 8 NP_001350705.1:p.Thr35Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant 1 NM_021634.4:c.347C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Thr116Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant 3 NM_001253728.2:c.248C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Thr83Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant 4 NM_001253729.2:c.347C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Thr116Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant 2 NM_001253727.2:c.428C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Thr143Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant 13 NR_045584.2:n.442C>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 9 NR_045580.2:n.495C>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 8 NR_045579.2:n.1131C>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 12 NR_045583.2:n.385C>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 11 NR_045582.2:n.547C>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 10 NR_045581.2:n.466C>T N/A Non Coding Transcript Variant
RXFP1 transcript variant X11 XM_017008526.2:c. N/A Genic Upstream Transcript Variant
RXFP1 transcript variant X1 XM_011532174.2:c.428C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X1 XP_011530476.1:p.Thr143Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X2 XM_011532175.2:c.428C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X2 XP_011530477.1:p.Thr143Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X3 XM_017008517.2:c.428C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X3 XP_016864006.1:p.Thr143Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X4 XM_017008518.3:c.347C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X4 XP_016864007.1:p.Thr116Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X5 XM_011532176.3:c.347C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X5 XP_011530478.1:p.Thr116Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X6 XM_017008520.2:c.185C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X6 XP_016864009.1:p.Thr62Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X7 XM_011532179.3:c.428C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X7 XP_011530481.1:p.Thr143Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X8 XM_017008523.3:c.347C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X8 XP_016864012.1:p.Thr116Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X9 XM_017008524.3:c.347C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X9 XP_016864013.1:p.Thr116Ile T (Thr) > I (Ile) Missense Variant
RXFP1 transcript variant X10 XM_017008525.2:c.248C>T T [ACC] > I [ATC] Coding Sequence Variant
relaxin receptor 1 isoform X10 XP_016864014.1:p.Thr83Ile T (Thr) > I (Ile) Missense 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 C= T
GRCh38.p14 chr 4 NC_000004.12:g.158599386= NC_000004.12:g.158599386C>T
GRCh37.p13 chr 4 NC_000004.11:g.159520538= NC_000004.11:g.159520538C>T
RXFP1 RefSeqGene NG_031835.2:g.82673= NG_031835.2:g.82673C>T
RXFP1 transcript variant 1 NM_021634.4:c.347= NM_021634.4:c.347C>T
RXFP1 transcript variant 1 NM_021634.3:c.347= NM_021634.3:c.347C>T
RXFP1 transcript variant 8 NR_045579.2:n.1131= NR_045579.2:n.1131C>T
RXFP1 transcript variant 8 NR_045579.1:n.1299= NR_045579.1:n.1299C>T
RXFP1 transcript variant 6 NM_001253732.2:c.-134= NM_001253732.2:c.-134C>T
RXFP1 transcript variant 6 NM_001253732.1:c.-134= NM_001253732.1:c.-134C>T
RXFP1 transcript variant 2 NM_001253727.2:c.428= NM_001253727.2:c.428C>T
RXFP1 transcript variant 2 NM_001253727.1:c.428= NM_001253727.1:c.428C>T
RXFP1 transcript variant 9 NR_045580.2:n.495= NR_045580.2:n.495C>T
RXFP1 transcript variant 9 NR_045580.1:n.663= NR_045580.1:n.663C>T
RXFP1 transcript variant 10 NR_045581.2:n.466= NR_045581.2:n.466C>T
RXFP1 transcript variant 10 NR_045581.1:n.634= NR_045581.1:n.634C>T
RXFP1 transcript variant 7 NM_001253733.2:c.-134= NM_001253733.2:c.-134C>T
RXFP1 transcript variant 7 NM_001253733.1:c.-134= NM_001253733.1:c.-134C>T
RXFP1 transcript variant 11 NR_045582.2:n.547= NR_045582.2:n.547C>T
RXFP1 transcript variant 11 NR_045582.1:n.715= NR_045582.1:n.715C>T
RXFP1 transcript variant 12 NR_045583.2:n.385= NR_045583.2:n.385C>T
RXFP1 transcript variant 12 NR_045583.1:n.553= NR_045583.1:n.553C>T
RXFP1 transcript variant 5 NM_001253730.2:c.-44= NM_001253730.2:c.-44C>T
RXFP1 transcript variant 5 NM_001253730.1:c.-44= NM_001253730.1:c.-44C>T
RXFP1 transcript variant 3 NM_001253728.2:c.248= NM_001253728.2:c.248C>T
RXFP1 transcript variant 3 NM_001253728.1:c.248= NM_001253728.1:c.248C>T
RXFP1 transcript variant 4 NM_001253729.2:c.347= NM_001253729.2:c.347C>T
RXFP1 transcript variant 4 NM_001253729.1:c.347= NM_001253729.1:c.347C>T
RXFP1 transcript variant 13 NR_045584.2:n.442= NR_045584.2:n.442C>T
RXFP1 transcript variant 13 NR_045584.1:n.610= NR_045584.1:n.610C>T
RXFP1 transcript variant 14 NM_001363776.1:c.104= NM_001363776.1:c.104C>T
RXFP1 transcript variant X4 XM_017008518.3:c.347= XM_017008518.3:c.347C>T
RXFP1 transcript variant X4 XM_017008518.2:c.347= XM_017008518.2:c.347C>T
RXFP1 transcript variant X4 XM_017008518.1:c.347= XM_017008518.1:c.347C>T
RXFP1 transcript variant X5 XM_011532176.3:c.347= XM_011532176.3:c.347C>T
RXFP1 transcript variant X5 XM_011532176.2:c.347= XM_011532176.2:c.347C>T
RXFP1 transcript variant X5 XM_011532176.1:c.347= XM_011532176.1:c.347C>T
RXFP1 transcript variant X7 XM_011532179.3:c.428= XM_011532179.3:c.428C>T
RXFP1 transcript variant X10 XM_011532179.2:c.428= XM_011532179.2:c.428C>T
RXFP1 transcript variant X6 XM_011532179.1:c.428= XM_011532179.1:c.428C>T
RXFP1 transcript variant X8 XM_017008523.3:c.347= XM_017008523.3:c.347C>T
RXFP1 transcript variant X11 XM_017008523.2:c.347= XM_017008523.2:c.347C>T
RXFP1 transcript variant X11 XM_017008523.1:c.347= XM_017008523.1:c.347C>T
RXFP1 transcript variant X9 XM_017008524.3:c.347= XM_017008524.3:c.347C>T
RXFP1 transcript variant X12 XM_017008524.2:c.347= XM_017008524.2:c.347C>T
RXFP1 transcript variant X12 XM_017008524.1:c.347= XM_017008524.1:c.347C>T
RXFP1 transcript variant X1 XM_011532174.2:c.428= XM_011532174.2:c.428C>T
RXFP1 transcript variant X1 XM_011532174.1:c.428= XM_011532174.1:c.428C>T
RXFP1 transcript variant X2 XM_011532175.2:c.428= XM_011532175.2:c.428C>T
RXFP1 transcript variant X2 XM_011532175.1:c.428= XM_011532175.1:c.428C>T
RXFP1 transcript variant X3 XM_017008517.2:c.428= XM_017008517.2:c.428C>T
RXFP1 transcript variant X3 XM_017008517.1:c.428= XM_017008517.1:c.428C>T
RXFP1 transcript variant X6 XM_017008520.2:c.185= XM_017008520.2:c.185C>T
RXFP1 transcript variant X7 XM_017008520.1:c.185= XM_017008520.1:c.185C>T
RXFP1 transcript variant X10 XM_017008525.2:c.248= XM_017008525.2:c.248C>T
RXFP1 transcript variant X13 XM_017008525.1:c.248= XM_017008525.1:c.248C>T
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Thr116= NP_067647.2:p.Thr116Ile
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Thr143= NP_001240656.1:p.Thr143Ile
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Thr83= NP_001240657.1:p.Thr83Ile
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Thr116= NP_001240658.1:p.Thr116Ile
relaxin receptor 1 isoform 8 NP_001350705.1:p.Thr35= NP_001350705.1:p.Thr35Ile
relaxin receptor 1 isoform X4 XP_016864007.1:p.Thr116= XP_016864007.1:p.Thr116Ile
relaxin receptor 1 isoform X5 XP_011530478.1:p.Thr116= XP_011530478.1:p.Thr116Ile
relaxin receptor 1 isoform X7 XP_011530481.1:p.Thr143= XP_011530481.1:p.Thr143Ile
relaxin receptor 1 isoform X8 XP_016864012.1:p.Thr116= XP_016864012.1:p.Thr116Ile
relaxin receptor 1 isoform X9 XP_016864013.1:p.Thr116= XP_016864013.1:p.Thr116Ile
relaxin receptor 1 isoform X1 XP_011530476.1:p.Thr143= XP_011530476.1:p.Thr143Ile
relaxin receptor 1 isoform X2 XP_011530477.1:p.Thr143= XP_011530477.1:p.Thr143Ile
relaxin receptor 1 isoform X3 XP_016864006.1:p.Thr143= XP_016864006.1:p.Thr143Ile
relaxin receptor 1 isoform X6 XP_016864009.1:p.Thr62= XP_016864009.1:p.Thr62Ile
relaxin receptor 1 isoform X10 XP_016864014.1:p.Thr83= XP_016864014.1:p.Thr83Ile
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 ss2734797978 Nov 08, 2017 (151)
2 GNOMAD ss4123926553 Apr 26, 2021 (155)
3 TOPMED ss4639026131 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000004.12 - 158599386 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000004.11 - 159520538 Jul 13, 2019 (153)
6 TopMed NC_000004.12 - 158599386 Apr 26, 2021 (155)
7 ALFA NC_000004.12 - 158599386 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
3910535, ss2734797978 NC_000004.11:159520537:C:T NC_000004.12:158599385:C:T (self)
170847627, 476403687, 5731320609, ss4123926553, ss4639026131 NC_000004.12:158599385:C:T NC_000004.12:158599385:C:T (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 rs1464461963

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