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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.

rs547113524

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:158647059 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (2/264690, TOPMED)
C=0.000052 (13/249288, GnomAD_exome)
C=0.000014 (2/140312, GnomAD) (+ 4 more)
C=0.000050 (6/120642, ExAC)
C=0.00006 (2/35430, ALFA)
C=0.0002 (1/6404, 1000G_30x)
C=0.0002 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RXFP1 : Synonymous 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 35430 T=0.99994 C=0.00006
European Sub 26586 T=0.99992 C=0.00008
African Sub 2918 T=1.0000 C=0.0000
African Others Sub 114 T=1.000 C=0.000
African American Sub 2804 T=1.0000 C=0.0000
Asian Sub 112 T=1.000 C=0.000
East Asian Sub 86 T=1.00 C=0.00
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 500 T=1.000 C=0.000
Latin American 2 Sub 628 T=1.000 C=0.000
South Asian Sub 98 T=1.00 C=0.00
Other Sub 4588 T=1.0000 C=0.0000


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 T=0.999992 C=0.000008
gnomAD - Exomes Global Study-wide 249288 T=0.999948 C=0.000052
gnomAD - Exomes European Sub 134618 T=0.999985 C=0.000015
gnomAD - Exomes Asian Sub 48574 T=0.99977 C=0.00023
gnomAD - Exomes American Sub 34506 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 15478 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10066 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6046 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140312 T=0.999986 C=0.000014
gnomAD - Genomes European Sub 75970 T=0.99999 C=0.00001
gnomAD - Genomes African Sub 42068 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13666 T=0.99993 C=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=1.0000 C=0.0000
ExAC Global Study-wide 120642 T=0.999950 C=0.000050
ExAC Europe Sub 73276 T=0.99999 C=0.00001
ExAC Asian Sub 25130 T=0.99980 C=0.00020
ExAC American Sub 11550 T=1.00000 C=0.00000
ExAC African Sub 9788 T=1.0000 C=0.0000
ExAC Other Sub 898 T=1.000 C=0.000
Allele Frequency Aggregator Total Global 35430 T=0.99994 C=0.00006
Allele Frequency Aggregator European Sub 26586 T=0.99992 C=0.00008
Allele Frequency Aggregator Other Sub 4588 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2918 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00
1000Genomes_30x Global Study-wide 6404 T=0.9998 C=0.0002
1000Genomes_30x African Sub 1786 T=1.0000 C=0.0000
1000Genomes_30x Europe Sub 1266 T=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 T=0.9992 C=0.0008
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=1.000 C=0.000
1000Genomes Global Study-wide 5008 T=0.9998 C=0.0002
1000Genomes African Sub 1322 T=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=0.999 C=0.001
1000Genomes American Sub 694 T=1.000 C=0.000
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.158647059T>C
GRCh37.p13 chr 4 NC_000004.11:g.159568211T>C
RXFP1 RefSeqGene NG_031835.2:g.130346T>C
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.1371T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 8 NP_001350705.1:p.Thr457= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 1 NM_021634.4:c.1614T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Thr538= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 3 NM_001253728.2:c.1515T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Thr505= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 6 NM_001253732.2:c.1218T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 6 NP_001240661.1:p.Thr406= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 4 NM_001253729.2:c.1470T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Thr490= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 2 NM_001253727.2:c.1695T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Thr565= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 5 NM_001253730.2:c.1221T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 5 NP_001240659.1:p.Thr407= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 7 NM_001253733.2:c.1146T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform 7 NP_001240662.1:p.Thr382= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant 9 NR_045580.2:n.1762T>C N/A Non Coding Transcript Variant
RXFP1 transcript variant 8 NR_045579.2:n.2326T>C N/A Non Coding Transcript Variant
RXFP1 transcript variant 12 NR_045583.2:n.1649T>C N/A Non Coding Transcript Variant
RXFP1 transcript variant 11 NR_045582.2:n.1670T>C N/A Non Coding Transcript Variant
RXFP1 transcript variant 10 NR_045581.2:n.1733T>C N/A Non Coding Transcript Variant
RXFP1 transcript variant 13 NR_045584.2:n. N/A Genic Downstream Transcript Variant
RXFP1 transcript variant X7 XM_011532179.3:c.1197-469…

XM_011532179.3:c.1197-4698T>C

 		N/A Intron Variant
RXFP1 transcript variant X8 XM_017008523.3:c.1116-469…

XM_017008523.3:c.1116-4698T>C

 		N/A Intron Variant
RXFP1 transcript variant X9 XM_017008524.3:c.1044-469…

XM_017008524.3:c.1044-4698T>C

 		N/A Intron Variant
RXFP1 transcript variant X10 XM_017008525.2:c.1017-469…

XM_017008525.2:c.1017-4698T>C

 		N/A Intron Variant
RXFP1 transcript variant X1 XM_011532174.2:c.1692T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform X1 XP_011530476.1:p.Thr564= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant X2 XM_011532175.2:c.1623T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform X2 XP_011530477.1:p.Thr541= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant X3 XM_017008517.2:c.1620T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform X3 XP_016864006.1:p.Thr540= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant X4 XM_017008518.3:c.1611T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform X4 XP_016864007.1:p.Thr537= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant X5 XM_011532176.3:c.1542T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform X5 XP_011530478.1:p.Thr514= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant X6 XM_017008520.2:c.1452T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform X6 XP_016864009.1:p.Thr484= T (Thr) > T (Thr) Synonymous Variant
RXFP1 transcript variant X11 XM_017008526.2:c.1146T>C T [ACT] > T [ACC] Coding Sequence Variant
relaxin receptor 1 isoform X11 XP_016864015.1:p.Thr382= T (Thr) > T (Thr) Synonymous 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 T= C
GRCh38.p14 chr 4 NC_000004.12:g.158647059= NC_000004.12:g.158647059T>C
GRCh37.p13 chr 4 NC_000004.11:g.159568211= NC_000004.11:g.159568211T>C
RXFP1 RefSeqGene NG_031835.2:g.130346= NG_031835.2:g.130346T>C
RXFP1 transcript variant 1 NM_021634.4:c.1614= NM_021634.4:c.1614T>C
RXFP1 transcript variant 1 NM_021634.3:c.1614= NM_021634.3:c.1614T>C
RXFP1 transcript variant 8 NR_045579.2:n.2326= NR_045579.2:n.2326T>C
RXFP1 transcript variant 8 NR_045579.1:n.2494= NR_045579.1:n.2494T>C
RXFP1 transcript variant 6 NM_001253732.2:c.1218= NM_001253732.2:c.1218T>C
RXFP1 transcript variant 6 NM_001253732.1:c.1218= NM_001253732.1:c.1218T>C
RXFP1 transcript variant 2 NM_001253727.2:c.1695= NM_001253727.2:c.1695T>C
RXFP1 transcript variant 2 NM_001253727.1:c.1695= NM_001253727.1:c.1695T>C
RXFP1 transcript variant 9 NR_045580.2:n.1762= NR_045580.2:n.1762T>C
RXFP1 transcript variant 9 NR_045580.1:n.1930= NR_045580.1:n.1930T>C
RXFP1 transcript variant 10 NR_045581.2:n.1733= NR_045581.2:n.1733T>C
RXFP1 transcript variant 10 NR_045581.1:n.1901= NR_045581.1:n.1901T>C
RXFP1 transcript variant 7 NM_001253733.2:c.1146= NM_001253733.2:c.1146T>C
RXFP1 transcript variant 7 NM_001253733.1:c.1146= NM_001253733.1:c.1146T>C
RXFP1 transcript variant 11 NR_045582.2:n.1670= NR_045582.2:n.1670T>C
RXFP1 transcript variant 11 NR_045582.1:n.1838= NR_045582.1:n.1838T>C
RXFP1 transcript variant 12 NR_045583.2:n.1649= NR_045583.2:n.1649T>C
RXFP1 transcript variant 12 NR_045583.1:n.1817= NR_045583.1:n.1817T>C
RXFP1 transcript variant 5 NM_001253730.2:c.1221= NM_001253730.2:c.1221T>C
RXFP1 transcript variant 5 NM_001253730.1:c.1221= NM_001253730.1:c.1221T>C
RXFP1 transcript variant 3 NM_001253728.2:c.1515= NM_001253728.2:c.1515T>C
RXFP1 transcript variant 3 NM_001253728.1:c.1515= NM_001253728.1:c.1515T>C
RXFP1 transcript variant 4 NM_001253729.2:c.1470= NM_001253729.2:c.1470T>C
RXFP1 transcript variant 4 NM_001253729.1:c.1470= NM_001253729.1:c.1470T>C
RXFP1 transcript variant 14 NM_001363776.1:c.1371= NM_001363776.1:c.1371T>C
RXFP1 transcript variant X4 XM_017008518.3:c.1611= XM_017008518.3:c.1611T>C
RXFP1 transcript variant X4 XM_017008518.2:c.1611= XM_017008518.2:c.1611T>C
RXFP1 transcript variant X4 XM_017008518.1:c.1611= XM_017008518.1:c.1611T>C
RXFP1 transcript variant X5 XM_011532176.3:c.1542= XM_011532176.3:c.1542T>C
RXFP1 transcript variant X5 XM_011532176.2:c.1542= XM_011532176.2:c.1542T>C
RXFP1 transcript variant X5 XM_011532176.1:c.1542= XM_011532176.1:c.1542T>C
RXFP1 transcript variant X1 XM_011532174.2:c.1692= XM_011532174.2:c.1692T>C
RXFP1 transcript variant X1 XM_011532174.1:c.1692= XM_011532174.1:c.1692T>C
RXFP1 transcript variant X2 XM_011532175.2:c.1623= XM_011532175.2:c.1623T>C
RXFP1 transcript variant X2 XM_011532175.1:c.1623= XM_011532175.1:c.1623T>C
RXFP1 transcript variant X3 XM_017008517.2:c.1620= XM_017008517.2:c.1620T>C
RXFP1 transcript variant X3 XM_017008517.1:c.1620= XM_017008517.1:c.1620T>C
RXFP1 transcript variant X6 XM_017008520.2:c.1452= XM_017008520.2:c.1452T>C
RXFP1 transcript variant X7 XM_017008520.1:c.1452= XM_017008520.1:c.1452T>C
RXFP1 transcript variant X11 XM_017008526.2:c.1146= XM_017008526.2:c.1146T>C
RXFP1 transcript variant X14 XM_017008526.1:c.1146= XM_017008526.1:c.1146T>C
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Thr538= NP_067647.2:p.Thr538=
relaxin receptor 1 isoform 6 NP_001240661.1:p.Thr406= NP_001240661.1:p.Thr406=
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Thr565= NP_001240656.1:p.Thr565=
relaxin receptor 1 isoform 7 NP_001240662.1:p.Thr382= NP_001240662.1:p.Thr382=
relaxin receptor 1 isoform 5 NP_001240659.1:p.Thr407= NP_001240659.1:p.Thr407=
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Thr505= NP_001240657.1:p.Thr505=
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Thr490= NP_001240658.1:p.Thr490=
relaxin receptor 1 isoform 8 NP_001350705.1:p.Thr457= NP_001350705.1:p.Thr457=
relaxin receptor 1 isoform X4 XP_016864007.1:p.Thr537= XP_016864007.1:p.Thr537=
relaxin receptor 1 isoform X5 XP_011530478.1:p.Thr514= XP_011530478.1:p.Thr514=
relaxin receptor 1 isoform X1 XP_011530476.1:p.Thr564= XP_011530476.1:p.Thr564=
relaxin receptor 1 isoform X2 XP_011530477.1:p.Thr541= XP_011530477.1:p.Thr541=
relaxin receptor 1 isoform X3 XP_016864006.1:p.Thr540= XP_016864006.1:p.Thr540=
relaxin receptor 1 isoform X6 XP_016864009.1:p.Thr484= XP_016864009.1:p.Thr484=
relaxin receptor 1 isoform X11 XP_016864015.1:p.Thr382= XP_016864015.1:p.Thr382=
RXFP1 transcript variant X7 XM_011532179.3:c.1197-4698= XM_011532179.3:c.1197-4698T>C
RXFP1 transcript variant X8 XM_017008523.3:c.1116-4698= XM_017008523.3:c.1116-4698T>C
RXFP1 transcript variant X9 XM_017008524.3:c.1044-4698= XM_017008524.3:c.1044-4698T>C
RXFP1 transcript variant X10 XM_017008525.2:c.1017-4698= XM_017008525.2:c.1017-4698T>C
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#.

9 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1312617141 Aug 21, 2014 (142)
2 EVA_EXAC ss1687678170 Apr 01, 2015 (144)
3 GNOMAD ss2734798581 Nov 08, 2017 (151)
4 GNOMAD ss2747321383 Nov 08, 2017 (151)
5 GNOMAD ss2817560578 Nov 08, 2017 (151)
6 TOPMED ss4639036707 Apr 26, 2021 (155)
7 EVA ss5353581477 Oct 17, 2022 (156)
8 1000G_HIGH_COVERAGE ss5544195777 Oct 17, 2022 (156)
9 EVA ss5866304582 Oct 17, 2022 (156)
10 1000Genomes NC_000004.11 - 159568211 Oct 12, 2018 (152)
11 1000Genomes_30x NC_000004.12 - 158647059 Oct 17, 2022 (156)
12 ExAC NC_000004.11 - 159568211 Oct 12, 2018 (152)
13 gnomAD - Genomes NC_000004.12 - 158647059 Apr 26, 2021 (155)
14 gnomAD - Exomes NC_000004.11 - 159568211 Jul 13, 2019 (153)
15 TopMed NC_000004.12 - 158647059 Apr 26, 2021 (155)
16 ALFA NC_000004.12 - 158647059 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
24122146, 7658432, 3911157, ss1312617141, ss1687678170, ss2734798581, ss2747321383, ss2817560578, ss5353581477 NC_000004.11:159568210:T:C NC_000004.12:158647058:T:C (self)
31721712, 170856523, 476414263, 5574459629, ss4639036707, ss5544195777, ss5866304582 NC_000004.12:158647058:T:C NC_000004.12:158647058:T:C (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 rs547113524

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