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.

rs374613011

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:76181405 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000340 (90/264690, TOPMED)
A=0.000068 (17/248650, GnomAD_exome)
A=0.000292 (41/140232, GnomAD) (+ 6 more)
A=0.000126 (15/119190, ExAC)
A=0.00041 (32/78698, PAGE_STUDY)
A=0.00017 (4/23696, ALFA)
A=0.00031 (4/13006, GO-ESP)
A=0.0005 (3/6404, 1000G_30x)
A=0.0004 (2/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PCSK5 : 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 39962 G=0.99975 A=0.00025
European Sub 25834 G=1.00000 A=0.00000
African Sub 8758 G=0.9990 A=0.0010
African Others Sub 306 G=1.000 A=0.000
African American Sub 8452 G=0.9989 A=0.0011
Asian Sub 202 G=1.000 A=0.000
East Asian Sub 146 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 104 G=1.000 A=0.000
Other Sub 4308 G=0.9998 A=0.0002


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 G=0.999660 A=0.000340
gnomAD - Exomes Global Study-wide 248650 G=0.999932 A=0.000068
gnomAD - Exomes European Sub 133656 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48586 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34214 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16204 G=0.99895 A=0.00105
gnomAD - Exomes Ashkenazi Jewish Sub 9948 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 6042 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140232 G=0.999708 A=0.000292
gnomAD - Genomes European Sub 75946 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42036 G=0.99902 A=0.00098
gnomAD - Genomes American Sub 13640 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
ExAC Global Study-wide 119190 G=0.999874 A=0.000126
ExAC Europe Sub 72604 G=1.00000 A=0.00000
ExAC Asian Sub 23806 G=1.00000 A=0.00000
ExAC American Sub 11514 G=1.00000 A=0.00000
ExAC African Sub 10376 G=0.99855 A=0.00145
ExAC Other Sub 890 G=1.000 A=0.000
The PAGE Study Global Study-wide 78698 G=0.99959 A=0.00041
The PAGE Study AfricanAmerican Sub 32516 G=0.99911 A=0.00089
The PAGE Study Mexican Sub 10806 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=0.9997 A=0.0003
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=0.9984 A=0.0016
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 23696 G=0.99983 A=0.00017
Allele Frequency Aggregator European Sub 15830 G=1.00000 A=0.00000
Allele Frequency Aggregator African Sub 3926 G=0.9992 A=0.0008
Allele Frequency Aggregator Other Sub 2878 G=0.9997 A=0.0003
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 202 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 104 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99969 A=0.00031
GO Exome Sequencing Project European American Sub 8600 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4406 G=0.9991 A=0.0009
1000Genomes_30x Global Study-wide 6404 G=0.9995 A=0.0005
1000Genomes_30x African Sub 1786 G=0.9983 A=0.0017
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9996 A=0.0004
1000Genomes African Sub 1322 G=0.9985 A=0.0015
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=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 9 NC_000009.12:g.76181405G>A
GRCh37.p13 chr 9 NC_000009.11:g.78796321G>A
PCSK5 RefSeqGene NG_029445.1:g.295762G>A
Gene: PCSK5, proprotein convertase subtilisin/kexin type 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PCSK5 transcript variant 2 NM_006200.6:c.2011G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform PC6A preproprotein NP_006191.2:p.Val671Ile V (Val) > I (Ile) Missense Variant
PCSK5 transcript variant 4 NM_001372043.1:c.2011G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform 3 precursor NP_001358972.1:p.Val671Ile V (Val) > I (Ile) Missense Variant
PCSK5 transcript variant 1 NM_001190482.2:c.2011G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform PC6B preproprotein NP_001177411.1:p.Val671Ile V (Val) > I (Ile) Missense Variant
PCSK5 transcript variant 3 NR_120409.2:n.2416G>A N/A Non Coding Transcript Variant
PCSK5 transcript variant X1 XM_011518769.4:c.2011G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform X1 XP_011517071.1:p.Val671Ile V (Val) > I (Ile) Missense Variant
PCSK5 transcript variant X2 XM_047423454.1:c.1726G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform X2 XP_047279410.1:p.Val576Ile V (Val) > I (Ile) Missense Variant
PCSK5 transcript variant X3 XM_011518770.3:c.673G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform X3 XP_011517072.1:p.Val225Ile V (Val) > I (Ile) Missense Variant
PCSK5 transcript variant X4 XM_047423455.1:c.2011G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform X4 XP_047279411.1:p.Val671Ile V (Val) > I (Ile) Missense Variant
PCSK5 transcript variant X5 XM_047423456.1:c.2011G>A V [GTC] > I [ATC] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 5 isoform X5 XP_047279412.1:p.Val671Ile V (Val) > 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 G= A
GRCh38.p14 chr 9 NC_000009.12:g.76181405= NC_000009.12:g.76181405G>A
GRCh37.p13 chr 9 NC_000009.11:g.78796321= NC_000009.11:g.78796321G>A
PCSK5 RefSeqGene NG_029445.1:g.295762= NG_029445.1:g.295762G>A
PCSK5 transcript variant 2 NM_006200.6:c.2011= NM_006200.6:c.2011G>A
PCSK5 transcript variant 2 NM_006200.5:c.2011= NM_006200.5:c.2011G>A
PCSK5 transcript variant 2 NM_006200.4:c.2011= NM_006200.4:c.2011G>A
PCSK5 transcript variant 2 NM_006200.3:c.2011= NM_006200.3:c.2011G>A
PCSK5 transcript variant 1 NM_001190482.2:c.2011= NM_001190482.2:c.2011G>A
PCSK5 transcript variant 1 NM_001190482.1:c.2011= NM_001190482.1:c.2011G>A
PCSK5 transcript variant 3 NR_120409.2:n.2416= NR_120409.2:n.2416G>A
PCSK5 transcript variant 3 NR_120409.1:n.2445= NR_120409.1:n.2445G>A
PCSK5 transcript variant 4 NM_001372043.1:c.2011= NM_001372043.1:c.2011G>A
PCSK5 transcript variant X1 XM_011518769.4:c.2011= XM_011518769.4:c.2011G>A
PCSK5 transcript variant X2 XM_011518769.3:c.2011= XM_011518769.3:c.2011G>A
PCSK5 transcript variant X2 XM_011518769.2:c.2011= XM_011518769.2:c.2011G>A
PCSK5 transcript variant X2 XM_011518769.1:c.2011= XM_011518769.1:c.2011G>A
PCSK5 transcript variant X3 XM_011518770.3:c.673= XM_011518770.3:c.673G>A
PCSK5 transcript variant X3 XM_011518770.2:c.673= XM_011518770.2:c.673G>A
PCSK5 transcript variant X3 XM_011518770.1:c.673= XM_011518770.1:c.673G>A
PCSK5 transcript variant X2 XM_047423454.1:c.1726= XM_047423454.1:c.1726G>A
PCSK5 transcript variant X4 XM_047423455.1:c.2011= XM_047423455.1:c.2011G>A
PCSK5 transcript variant X5 XM_047423456.1:c.2011= XM_047423456.1:c.2011G>A
proprotein convertase subtilisin/kexin type 5 isoform PC6A preproprotein NP_006191.2:p.Val671= NP_006191.2:p.Val671Ile
proprotein convertase subtilisin/kexin type 5 isoform PC6B preproprotein NP_001177411.1:p.Val671= NP_001177411.1:p.Val671Ile
proprotein convertase subtilisin/kexin type 5 isoform 3 precursor NP_001358972.1:p.Val671= NP_001358972.1:p.Val671Ile
proprotein convertase subtilisin/kexin type 5 isoform X1 XP_011517071.1:p.Val671= XP_011517071.1:p.Val671Ile
proprotein convertase subtilisin/kexin type 5 isoform X3 XP_011517072.1:p.Val225= XP_011517072.1:p.Val225Ile
proprotein convertase subtilisin/kexin type 5 isoform X2 XP_047279410.1:p.Val576= XP_047279410.1:p.Val576Ile
proprotein convertase subtilisin/kexin type 5 isoform X4 XP_047279411.1:p.Val671= XP_047279411.1:p.Val671Ile
proprotein convertase subtilisin/kexin type 5 isoform X5 XP_047279412.1:p.Val671= XP_047279412.1:p.Val671Ile
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#.

19 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 WARNICH_LAB ss678359397 Apr 25, 2013 (138)
2 NHLBI-ESP ss712890637 Apr 25, 2013 (138)
3 1000GENOMES ss1334113188 Aug 21, 2014 (142)
4 EVA_EXAC ss1689514277 Apr 01, 2015 (144)
5 ILLUMINA ss1959188510 Feb 12, 2016 (147)
6 HUMAN_LONGEVITY ss2311695602 Dec 20, 2016 (150)
7 GNOMAD ss2737652836 Nov 08, 2017 (151)
8 GNOMAD ss2748201634 Nov 08, 2017 (151)
9 GNOMAD ss2879403382 Nov 08, 2017 (151)
10 ILLUMINA ss3022933881 Nov 08, 2017 (151)
11 ILLUMINA ss3653486438 Oct 12, 2018 (152)
12 ILLUMINA ss3726615532 Jul 13, 2019 (153)
13 PAGE_CC ss3771503182 Jul 13, 2019 (153)
14 EVA ss3824434756 Apr 26, 2020 (154)
15 TOPMED ss4823791854 Apr 26, 2021 (155)
16 1000G_HIGH_COVERAGE ss5280996861 Oct 16, 2022 (156)
17 EVA ss5388112209 Oct 16, 2022 (156)
18 1000G_HIGH_COVERAGE ss5573465819 Oct 16, 2022 (156)
19 EVA ss5916674634 Oct 16, 2022 (156)
20 1000Genomes NC_000009.11 - 78796321 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000009.12 - 76181405 Oct 16, 2022 (156)
22 ExAC NC_000009.11 - 78796321 Oct 12, 2018 (152)
23 gnomAD - Genomes NC_000009.12 - 76181405 Apr 26, 2021 (155)
24 gnomAD - Exomes NC_000009.11 - 78796321 Jul 13, 2019 (153)
25 GO Exome Sequencing Project NC_000009.11 - 78796321 Oct 12, 2018 (152)
26 The PAGE Study NC_000009.12 - 76181405 Jul 13, 2019 (153)
27 TopMed NC_000009.12 - 76181405 Apr 26, 2021 (155)
28 ALFA NC_000009.12 - 76181405 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
46381960, 9639406, 6834646, 892547, ss678359397, ss712890637, ss1334113188, ss1689514277, ss1959188510, ss2737652836, ss2748201634, ss2879403382, ss3022933881, ss3653486438, ss3824434756, ss5388112209 NC_000009.11:78796320:G:A NC_000009.12:76181404:G:A (self)
60991754, 327946052, 724651, 661169415, 8112146188, ss2311695602, ss3726615532, ss3771503182, ss4823791854, ss5280996861, ss5573465819, ss5916674634 NC_000009.12:76181404:G:A NC_000009.12:76181404:G:A (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 rs374613011

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