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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.

rs1451320937

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:158639306 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.0002 (1/4480, Estonian)
G=0.0002 (1/4470, 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 4470 A=0.9998 G=0.0002
European Sub 4462 A=0.9998 G=0.0002
African Sub 0 A=0 G=0
African Others Sub 0 A=0 G=0
African American Sub 0 A=0 G=0
Asian Sub 0 A=0 G=0
East Asian Sub 0 A=0 G=0
Other Asian Sub 0 A=0 G=0
Latin American 1 Sub 0 A=0 G=0
Latin American 2 Sub 0 A=0 G=0
South Asian Sub 0 A=0 G=0
Other Sub 8 A=1.0 G=0.0


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
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9998 G=0.0002
Allele Frequency Aggregator Total Global 4470 A=0.9998 G=0.0002
Allele Frequency Aggregator European Sub 4462 A=0.9998 G=0.0002
Allele Frequency Aggregator Other Sub 8 A=1.0 G=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 A=0 G=0
Allele Frequency Aggregator Latin American 2 Sub 0 A=0 G=0
Allele Frequency Aggregator South Asian Sub 0 A=0 G=0
Allele Frequency Aggregator African Sub 0 A=0 G=0
Allele Frequency Aggregator Asian Sub 0 A=0 G=0
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.158639306A>G
GRCh37.p13 chr 4 NC_000004.11:g.159560458A>G
RXFP1 RefSeqGene NG_031835.2:g.122593A>G
Gene: RXFP1, relaxin family peptide receptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RXFP1 transcript variant 14 NM_001363776.1:c.847A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 8 NP_001350705.1:p.Arg283Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 1 NM_021634.4:c.1090A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Arg364Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 3 NM_001253728.2:c.991A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Arg331Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 6 NM_001253732.2:c.694A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 6 NP_001240661.1:p.Arg232Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 4 NM_001253729.2:c.946A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Arg316Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 2 NM_001253727.2:c.1171A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Arg391Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 5 NM_001253730.2:c.697A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 5 NP_001240659.1:p.Arg233Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 7 NM_001253733.2:c.622A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform 7 NP_001240662.1:p.Arg208Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant 13 NR_045584.2:n.1238A>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 9 NR_045580.2:n.1238A>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 8 NR_045579.2:n.1802A>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 12 NR_045583.2:n.1125A>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 11 NR_045582.2:n.1146A>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 10 NR_045581.2:n.1209A>G N/A Non Coding Transcript Variant
RXFP1 transcript variant X1 XM_011532174.2:c.1168A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X1 XP_011530476.1:p.Arg390Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X2 XM_011532175.2:c.1099A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X2 XP_011530477.1:p.Arg367Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X3 XM_017008517.2:c.1096A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X3 XP_016864006.1:p.Arg366Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X4 XM_017008518.3:c.1087A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X4 XP_016864007.1:p.Arg363Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X5 XM_011532176.3:c.1018A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X5 XP_011530478.1:p.Arg340Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X6 XM_017008520.2:c.928A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X6 XP_016864009.1:p.Arg310Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X7 XM_011532179.3:c.1171A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X7 XP_011530481.1:p.Arg391Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X8 XM_017008523.3:c.1090A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X8 XP_016864012.1:p.Arg364Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X9 XM_017008524.3:c.1018A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X9 XP_016864013.1:p.Arg340Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X10 XM_017008525.2:c.991A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X10 XP_016864014.1:p.Arg331Gly R (Arg) > G (Gly) Missense Variant
RXFP1 transcript variant X11 XM_017008526.2:c.622A>G R [AGA] > G [GGA] Coding Sequence Variant
relaxin receptor 1 isoform X11 XP_016864015.1:p.Arg208Gly R (Arg) > G (Gly) 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 A= G
GRCh38.p14 chr 4 NC_000004.12:g.158639306= NC_000004.12:g.158639306A>G
GRCh37.p13 chr 4 NC_000004.11:g.159560458= NC_000004.11:g.159560458A>G
RXFP1 RefSeqGene NG_031835.2:g.122593= NG_031835.2:g.122593A>G
RXFP1 transcript variant 1 NM_021634.4:c.1090= NM_021634.4:c.1090A>G
RXFP1 transcript variant 1 NM_021634.3:c.1090= NM_021634.3:c.1090A>G
RXFP1 transcript variant 8 NR_045579.2:n.1802= NR_045579.2:n.1802A>G
RXFP1 transcript variant 8 NR_045579.1:n.1970= NR_045579.1:n.1970A>G
RXFP1 transcript variant 6 NM_001253732.2:c.694= NM_001253732.2:c.694A>G
RXFP1 transcript variant 6 NM_001253732.1:c.694= NM_001253732.1:c.694A>G
RXFP1 transcript variant 2 NM_001253727.2:c.1171= NM_001253727.2:c.1171A>G
RXFP1 transcript variant 2 NM_001253727.1:c.1171= NM_001253727.1:c.1171A>G
RXFP1 transcript variant 9 NR_045580.2:n.1238= NR_045580.2:n.1238A>G
RXFP1 transcript variant 9 NR_045580.1:n.1406= NR_045580.1:n.1406A>G
RXFP1 transcript variant 10 NR_045581.2:n.1209= NR_045581.2:n.1209A>G
RXFP1 transcript variant 10 NR_045581.1:n.1377= NR_045581.1:n.1377A>G
RXFP1 transcript variant 7 NM_001253733.2:c.622= NM_001253733.2:c.622A>G
RXFP1 transcript variant 7 NM_001253733.1:c.622= NM_001253733.1:c.622A>G
RXFP1 transcript variant 11 NR_045582.2:n.1146= NR_045582.2:n.1146A>G
RXFP1 transcript variant 11 NR_045582.1:n.1314= NR_045582.1:n.1314A>G
RXFP1 transcript variant 12 NR_045583.2:n.1125= NR_045583.2:n.1125A>G
RXFP1 transcript variant 12 NR_045583.1:n.1293= NR_045583.1:n.1293A>G
RXFP1 transcript variant 5 NM_001253730.2:c.697= NM_001253730.2:c.697A>G
RXFP1 transcript variant 5 NM_001253730.1:c.697= NM_001253730.1:c.697A>G
RXFP1 transcript variant 3 NM_001253728.2:c.991= NM_001253728.2:c.991A>G
RXFP1 transcript variant 3 NM_001253728.1:c.991= NM_001253728.1:c.991A>G
RXFP1 transcript variant 4 NM_001253729.2:c.946= NM_001253729.2:c.946A>G
RXFP1 transcript variant 4 NM_001253729.1:c.946= NM_001253729.1:c.946A>G
RXFP1 transcript variant 13 NR_045584.2:n.1238= NR_045584.2:n.1238A>G
RXFP1 transcript variant 13 NR_045584.1:n.1406= NR_045584.1:n.1406A>G
RXFP1 transcript variant 14 NM_001363776.1:c.847= NM_001363776.1:c.847A>G
RXFP1 transcript variant X4 XM_017008518.3:c.1087= XM_017008518.3:c.1087A>G
RXFP1 transcript variant X4 XM_017008518.2:c.1087= XM_017008518.2:c.1087A>G
RXFP1 transcript variant X4 XM_017008518.1:c.1087= XM_017008518.1:c.1087A>G
RXFP1 transcript variant X5 XM_011532176.3:c.1018= XM_011532176.3:c.1018A>G
RXFP1 transcript variant X5 XM_011532176.2:c.1018= XM_011532176.2:c.1018A>G
RXFP1 transcript variant X5 XM_011532176.1:c.1018= XM_011532176.1:c.1018A>G
RXFP1 transcript variant X7 XM_011532179.3:c.1171= XM_011532179.3:c.1171A>G
RXFP1 transcript variant X10 XM_011532179.2:c.1171= XM_011532179.2:c.1171A>G
RXFP1 transcript variant X6 XM_011532179.1:c.1171= XM_011532179.1:c.1171A>G
RXFP1 transcript variant X8 XM_017008523.3:c.1090= XM_017008523.3:c.1090A>G
RXFP1 transcript variant X11 XM_017008523.2:c.1090= XM_017008523.2:c.1090A>G
RXFP1 transcript variant X11 XM_017008523.1:c.1090= XM_017008523.1:c.1090A>G
RXFP1 transcript variant X9 XM_017008524.3:c.1018= XM_017008524.3:c.1018A>G
RXFP1 transcript variant X12 XM_017008524.2:c.1018= XM_017008524.2:c.1018A>G
RXFP1 transcript variant X12 XM_017008524.1:c.1018= XM_017008524.1:c.1018A>G
RXFP1 transcript variant X1 XM_011532174.2:c.1168= XM_011532174.2:c.1168A>G
RXFP1 transcript variant X1 XM_011532174.1:c.1168= XM_011532174.1:c.1168A>G
RXFP1 transcript variant X2 XM_011532175.2:c.1099= XM_011532175.2:c.1099A>G
RXFP1 transcript variant X2 XM_011532175.1:c.1099= XM_011532175.1:c.1099A>G
RXFP1 transcript variant X3 XM_017008517.2:c.1096= XM_017008517.2:c.1096A>G
RXFP1 transcript variant X3 XM_017008517.1:c.1096= XM_017008517.1:c.1096A>G
RXFP1 transcript variant X6 XM_017008520.2:c.928= XM_017008520.2:c.928A>G
RXFP1 transcript variant X7 XM_017008520.1:c.928= XM_017008520.1:c.928A>G
RXFP1 transcript variant X11 XM_017008526.2:c.622= XM_017008526.2:c.622A>G
RXFP1 transcript variant X14 XM_017008526.1:c.622= XM_017008526.1:c.622A>G
RXFP1 transcript variant X10 XM_017008525.2:c.991= XM_017008525.2:c.991A>G
RXFP1 transcript variant X13 XM_017008525.1:c.991= XM_017008525.1:c.991A>G
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Arg364= NP_067647.2:p.Arg364Gly
relaxin receptor 1 isoform 6 NP_001240661.1:p.Arg232= NP_001240661.1:p.Arg232Gly
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Arg391= NP_001240656.1:p.Arg391Gly
relaxin receptor 1 isoform 7 NP_001240662.1:p.Arg208= NP_001240662.1:p.Arg208Gly
relaxin receptor 1 isoform 5 NP_001240659.1:p.Arg233= NP_001240659.1:p.Arg233Gly
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Arg331= NP_001240657.1:p.Arg331Gly
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Arg316= NP_001240658.1:p.Arg316Gly
relaxin receptor 1 isoform 8 NP_001350705.1:p.Arg283= NP_001350705.1:p.Arg283Gly
relaxin receptor 1 isoform X4 XP_016864007.1:p.Arg363= XP_016864007.1:p.Arg363Gly
relaxin receptor 1 isoform X5 XP_011530478.1:p.Arg340= XP_011530478.1:p.Arg340Gly
relaxin receptor 1 isoform X7 XP_011530481.1:p.Arg391= XP_011530481.1:p.Arg391Gly
relaxin receptor 1 isoform X8 XP_016864012.1:p.Arg364= XP_016864012.1:p.Arg364Gly
relaxin receptor 1 isoform X9 XP_016864013.1:p.Arg340= XP_016864013.1:p.Arg340Gly
relaxin receptor 1 isoform X1 XP_011530476.1:p.Arg390= XP_011530476.1:p.Arg390Gly
relaxin receptor 1 isoform X2 XP_011530477.1:p.Arg367= XP_011530477.1:p.Arg367Gly
relaxin receptor 1 isoform X3 XP_016864006.1:p.Arg366= XP_016864006.1:p.Arg366Gly
relaxin receptor 1 isoform X6 XP_016864009.1:p.Arg310= XP_016864009.1:p.Arg310Gly
relaxin receptor 1 isoform X11 XP_016864015.1:p.Arg208= XP_016864015.1:p.Arg208Gly
relaxin receptor 1 isoform X10 XP_016864014.1:p.Arg331= XP_016864014.1:p.Arg331Gly
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 GNOMAD ss2747321350 Nov 08, 2017 (151)
2 EGCUT_WGS ss3663790424 Jul 13, 2019 (153)
3 Genetic variation in the Estonian population NC_000004.11 - 159560458 Oct 12, 2018 (152)
4 ALFA NC_000004.12 - 158639306 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
9528672, ss2747321350, ss3663790424 NC_000004.11:159560457:A:G NC_000004.12:158639305:A:G (self)
14065672960 NC_000004.12:158639305:A:G NC_000004.12:158639305:A:G (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 rs1451320937

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.post761+d5e8e07