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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.

rs1480391374

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:158626885 (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=0.000005 (1/217432, GnomAD_exome)
G=0.00005 (1/21312, 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 21312 C=0.99995 G=0.00005 0.999906 0.0 9.4e-05 0
European Sub 16846 C=0.99994 G=0.00006 0.999881 0.0 0.000119 0
African Sub 20 C=1.00 G=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 C=0 G=0 0 0 0 N/A
African American Sub 20 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 C=0 G=0 0 0 0 N/A
East Asian Sub 0 C=0 G=0 0 0 0 N/A
Other Asian Sub 0 C=0 G=0 0 0 0 N/A
Latin American 1 Sub 354 C=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 18 C=1.00 G=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 C=0 G=0 0 0 0 N/A
Other Sub 4074 C=1.0000 G=0.0000 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 - Exomes Global Study-wide 217432 C=0.999995 G=0.000005
gnomAD - Exomes European Sub 122770 C=0.999992 G=0.000008
gnomAD - Exomes Asian Sub 39896 C=1.00000 G=0.00000
gnomAD - Exomes American Sub 27254 C=1.00000 G=0.00000
gnomAD - Exomes African Sub 13042 C=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9452 C=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5018 C=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 21312 C=0.99995 G=0.00005
Allele Frequency Aggregator European Sub 16846 C=0.99994 G=0.00006
Allele Frequency Aggregator Other Sub 4074 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 354 C=1.000 G=0.000
Allele Frequency Aggregator African Sub 20 C=1.00 G=0.00
Allele Frequency Aggregator Latin American 2 Sub 18 C=1.00 G=0.00
Allele Frequency Aggregator South Asian Sub 0 C=0 G=0
Allele Frequency Aggregator Asian Sub 0 C=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.158626885C>G
GRCh37.p13 chr 4 NC_000004.11:g.159548037C>G
RXFP1 RefSeqGene NG_031835.2:g.110172C>G
Gene: RXFP1, relaxin family peptide receptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RXFP1 transcript variant 7 NM_001253733.2:c.360-1753…

NM_001253733.2:c.360-1753C>G

N/A Intron Variant
RXFP1 transcript variant 14 NM_001363776.1:c.578C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform 8 NP_001350705.1:p.Thr193Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant 1 NM_021634.4:c.821C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Thr274Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant 3 NM_001253728.2:c.722C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Thr241Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant 6 NM_001253732.2:c.425C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform 6 NP_001240661.1:p.Thr142Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant 4 NM_001253729.2:c.821C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Thr274Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant 2 NM_001253727.2:c.902C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Thr301Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant 5 NM_001253730.2:c.431C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform 5 NP_001240659.1:p.Thr144Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant 13 NR_045584.2:n.969C>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 9 NR_045580.2:n.969C>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 12 NR_045583.2:n.859C>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 11 NR_045582.2:n.1021C>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 10 NR_045581.2:n.940C>G N/A Non Coding Transcript Variant
RXFP1 transcript variant 8 NR_045579.2:n. N/A Intron Variant
RXFP1 transcript variant X2 XM_011532175.2:c.837-1753…

XM_011532175.2:c.837-1753C>G

N/A Intron Variant
RXFP1 transcript variant X5 XM_011532176.3:c.756-1753…

XM_011532176.3:c.756-1753C>G

N/A Intron Variant
RXFP1 transcript variant X3 XM_017008517.2:c.837-1753…

XM_017008517.2:c.837-1753C>G

N/A Intron Variant
RXFP1 transcript variant X9 XM_017008524.3:c.756-1753…

XM_017008524.3:c.756-1753C>G

N/A Intron Variant
RXFP1 transcript variant X11 XM_017008526.2:c.360-1753…

XM_017008526.2:c.360-1753C>G

N/A Intron Variant
RXFP1 transcript variant X1 XM_011532174.2:c.902C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform X1 XP_011530476.1:p.Thr301Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant X4 XM_017008518.3:c.821C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform X4 XP_016864007.1:p.Thr274Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant X6 XM_017008520.2:c.659C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform X6 XP_016864009.1:p.Thr220Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant X7 XM_011532179.3:c.902C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform X7 XP_011530481.1:p.Thr301Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant X8 XM_017008523.3:c.821C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform X8 XP_016864012.1:p.Thr274Ser T (Thr) > S (Ser) Missense Variant
RXFP1 transcript variant X10 XM_017008525.2:c.722C>G T [ACT] > S [AGT] Coding Sequence Variant
relaxin receptor 1 isoform X10 XP_016864014.1:p.Thr241Ser T (Thr) > S (Ser) 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= G
GRCh38.p14 chr 4 NC_000004.12:g.158626885= NC_000004.12:g.158626885C>G
GRCh37.p13 chr 4 NC_000004.11:g.159548037= NC_000004.11:g.159548037C>G
RXFP1 RefSeqGene NG_031835.2:g.110172= NG_031835.2:g.110172C>G
RXFP1 transcript variant 1 NM_021634.4:c.821= NM_021634.4:c.821C>G
RXFP1 transcript variant 1 NM_021634.3:c.821= NM_021634.3:c.821C>G
RXFP1 transcript variant 6 NM_001253732.2:c.425= NM_001253732.2:c.425C>G
RXFP1 transcript variant 6 NM_001253732.1:c.425= NM_001253732.1:c.425C>G
RXFP1 transcript variant 2 NM_001253727.2:c.902= NM_001253727.2:c.902C>G
RXFP1 transcript variant 2 NM_001253727.1:c.902= NM_001253727.1:c.902C>G
RXFP1 transcript variant 9 NR_045580.2:n.969= NR_045580.2:n.969C>G
RXFP1 transcript variant 9 NR_045580.1:n.1137= NR_045580.1:n.1137C>G
RXFP1 transcript variant 10 NR_045581.2:n.940= NR_045581.2:n.940C>G
RXFP1 transcript variant 10 NR_045581.1:n.1108= NR_045581.1:n.1108C>G
RXFP1 transcript variant 11 NR_045582.2:n.1021= NR_045582.2:n.1021C>G
RXFP1 transcript variant 11 NR_045582.1:n.1189= NR_045582.1:n.1189C>G
RXFP1 transcript variant 12 NR_045583.2:n.859= NR_045583.2:n.859C>G
RXFP1 transcript variant 12 NR_045583.1:n.1027= NR_045583.1:n.1027C>G
RXFP1 transcript variant 5 NM_001253730.2:c.431= NM_001253730.2:c.431C>G
RXFP1 transcript variant 5 NM_001253730.1:c.431= NM_001253730.1:c.431C>G
RXFP1 transcript variant 3 NM_001253728.2:c.722= NM_001253728.2:c.722C>G
RXFP1 transcript variant 3 NM_001253728.1:c.722= NM_001253728.1:c.722C>G
RXFP1 transcript variant 4 NM_001253729.2:c.821= NM_001253729.2:c.821C>G
RXFP1 transcript variant 4 NM_001253729.1:c.821= NM_001253729.1:c.821C>G
RXFP1 transcript variant 13 NR_045584.2:n.969= NR_045584.2:n.969C>G
RXFP1 transcript variant 13 NR_045584.1:n.1137= NR_045584.1:n.1137C>G
RXFP1 transcript variant 14 NM_001363776.1:c.578= NM_001363776.1:c.578C>G
RXFP1 transcript variant X4 XM_017008518.3:c.821= XM_017008518.3:c.821C>G
RXFP1 transcript variant X4 XM_017008518.2:c.821= XM_017008518.2:c.821C>G
RXFP1 transcript variant X4 XM_017008518.1:c.821= XM_017008518.1:c.821C>G
RXFP1 transcript variant X7 XM_011532179.3:c.902= XM_011532179.3:c.902C>G
RXFP1 transcript variant X10 XM_011532179.2:c.902= XM_011532179.2:c.902C>G
RXFP1 transcript variant X6 XM_011532179.1:c.902= XM_011532179.1:c.902C>G
RXFP1 transcript variant X8 XM_017008523.3:c.821= XM_017008523.3:c.821C>G
RXFP1 transcript variant X11 XM_017008523.2:c.821= XM_017008523.2:c.821C>G
RXFP1 transcript variant X11 XM_017008523.1:c.821= XM_017008523.1:c.821C>G
RXFP1 transcript variant X1 XM_011532174.2:c.902= XM_011532174.2:c.902C>G
RXFP1 transcript variant X1 XM_011532174.1:c.902= XM_011532174.1:c.902C>G
RXFP1 transcript variant X6 XM_017008520.2:c.659= XM_017008520.2:c.659C>G
RXFP1 transcript variant X7 XM_017008520.1:c.659= XM_017008520.1:c.659C>G
RXFP1 transcript variant X10 XM_017008525.2:c.722= XM_017008525.2:c.722C>G
RXFP1 transcript variant X13 XM_017008525.1:c.722= XM_017008525.1:c.722C>G
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Thr274= NP_067647.2:p.Thr274Ser
relaxin receptor 1 isoform 6 NP_001240661.1:p.Thr142= NP_001240661.1:p.Thr142Ser
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Thr301= NP_001240656.1:p.Thr301Ser
relaxin receptor 1 isoform 5 NP_001240659.1:p.Thr144= NP_001240659.1:p.Thr144Ser
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Thr241= NP_001240657.1:p.Thr241Ser
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Thr274= NP_001240658.1:p.Thr274Ser
relaxin receptor 1 isoform 8 NP_001350705.1:p.Thr193= NP_001350705.1:p.Thr193Ser
relaxin receptor 1 isoform X4 XP_016864007.1:p.Thr274= XP_016864007.1:p.Thr274Ser
relaxin receptor 1 isoform X7 XP_011530481.1:p.Thr301= XP_011530481.1:p.Thr301Ser
relaxin receptor 1 isoform X8 XP_016864012.1:p.Thr274= XP_016864012.1:p.Thr274Ser
relaxin receptor 1 isoform X1 XP_011530476.1:p.Thr301= XP_011530476.1:p.Thr301Ser
relaxin receptor 1 isoform X6 XP_016864009.1:p.Thr220= XP_016864009.1:p.Thr220Ser
relaxin receptor 1 isoform X10 XP_016864014.1:p.Thr241= XP_016864014.1:p.Thr241Ser
RXFP1 transcript variant 7 NM_001253733.1:c.360-1753= NM_001253733.1:c.360-1753C>G
RXFP1 transcript variant 7 NM_001253733.2:c.360-1753= NM_001253733.2:c.360-1753C>G
RXFP1 transcript variant X2 XM_011532175.2:c.837-1753= XM_011532175.2:c.837-1753C>G
RXFP1 transcript variant X5 XM_011532176.3:c.756-1753= XM_011532176.3:c.756-1753C>G
RXFP1 transcript variant X3 XM_017008517.2:c.837-1753= XM_017008517.2:c.837-1753C>G
RXFP1 transcript variant X9 XM_017008524.3:c.756-1753= XM_017008524.3:c.756-1753C>G
RXFP1 transcript variant X11 XM_017008526.2:c.360-1753= XM_017008526.2:c.360-1753C>G
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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2734798264 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000004.11 - 159548037 Jul 13, 2019 (153)
3 ALFA NC_000004.12 - 158626885 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
3910825, ss2734798264 NC_000004.11:159548036:C:G NC_000004.12:158626884:C:G (self)
5566679889 NC_000004.12:158626884:C:G NC_000004.12:158626884:C: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 rs1480391374

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