Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:55043849 (GRCh38.p13) 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.

Variation Type
SNV Single Nucleotide Variation
G=0.000004 (1/264690, TOPMED)
G=0.00000 (0/78686, PAGE_STUDY)
G=0.00008 (1/13006, GO-ESP) (+ 1 more)
G=0.00000 (0/11332, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PCSK9 : Missense Variant
0 citations
Genomic View
See rs on genome

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.p13 chr 1 NC_000001.11:g.55043849T>G
GRCh37.p13 chr 1 NC_000001.10:g.55509522T>G
PCSK9 RefSeqGene (LRG_275) NG_009061.1:g.9303T>G
Gene: PCSK9, proprotein convertase subtilisin/kexin type 9 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PCSK9 transcript variant 1 NM_174936.4:c.214T>G W [TGG] > G [GGG] Coding Sequence Variant
proprotein convertase subtilisin/kexin type 9 preproprotein NP_777596.2:p.Trp72Gly W (Trp) > G (Gly) Missense Variant
PCSK9 transcript variant 2 NR_110451.2:n. N/A Intron Variant

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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 11332 T=1.00000 G=0.00000
European Sub 7040 T=1.0000 G=0.0000
African Sub 2720 T=1.0000 G=0.0000
African Others Sub 84 T=1.00 G=0.00
African American Sub 2636 T=1.0000 G=0.0000
Asian Sub 142 T=1.000 G=0.000
East Asian Sub 118 T=1.000 G=0.000
Other Asian Sub 24 T=1.00 G=0.00
Latin American 1 Sub 146 T=1.000 G=0.000
Latin American 2 Sub 610 T=1.000 G=0.000
South Asian Sub 100 T=1.00 G=0.00
Other Sub 574 T=1.000 G=0.000


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999996 G=0.000004
The PAGE Study Global Study-wide 78686 T=1.00000 G=0.00000
The PAGE Study AfricanAmerican Sub 32510 T=1.00000 G=0.00000
The PAGE Study Mexican Sub 10810 T=1.00000 G=0.00000
The PAGE Study Asian Sub 8312 T=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 T=1.0000 G=0.0000
The PAGE Study NativeHawaiian Sub 4534 T=1.0000 G=0.0000
The PAGE Study Cuban Sub 4228 T=1.0000 G=0.0000
The PAGE Study Dominican Sub 3828 T=1.0000 G=0.0000
The PAGE Study CentralAmerican Sub 2448 T=1.0000 G=0.0000
The PAGE Study SouthAmerican Sub 1982 T=1.0000 G=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 G=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99992 G=0.00008
GO Exome Sequencing Project European American Sub 8600 T=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4406 T=1.0000 G=0.0000

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= G
GRCh38.p13 chr 1 NC_000001.11:g.55043849= NC_000001.11:g.55043849T>G
GRCh37.p13 chr 1 NC_000001.10:g.55509522= NC_000001.10:g.55509522T>G
PCSK9 RefSeqGene (LRG_275) NG_009061.1:g.9303= NG_009061.1:g.9303T>G
PCSK9 transcript variant 1 NM_174936.4:c.214= NM_174936.4:c.214T>G
PCSK9 transcript variant 1 NM_174936.3:c.214= NM_174936.3:c.214T>G
proprotein convertase subtilisin/kexin type 9 preproprotein NP_777596.2:p.Trp72= NP_777596.2:p.Trp72Gly

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#.

8 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss341966465 May 09, 2011 (134)
2 ILLUMINA ss1958273508 Feb 12, 2016 (147)
3 ILLUMINA ss3021088282 Nov 08, 2017 (151)
4 ILLUMINA ss3651414706 Oct 11, 2018 (152)
5 ILLUMINA ss3725025074 Jul 12, 2019 (153)
6 PAGE_CC ss3770809254 Jul 12, 2019 (153)
7 EVA ss3823615275 Apr 25, 2020 (154)
8 TOPMED ss4449765887 Apr 25, 2021 (155)
9 GO Exome Sequencing Project NC_000001.10 - 55509522 Oct 11, 2018 (152)
10 The PAGE Study NC_000001.11 - 55043849 Jul 12, 2019 (153)
11 TopMed NC_000001.11 - 55043849 Apr 25, 2021 (155)
12 ALFA NC_000001.11 - 55043849 Apr 25, 2021 (155)

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
73943, ss341966465, ss1958273508, ss3021088282, ss3651414706, ss3823615275 NC_000001.10:55509521:T:G NC_000001.11:55043848:T:G (self)
30723, 13372222, 7965964501, ss3725025074, ss3770809254, ss4449765887 NC_000001.11:55043848:T:G NC_000001.11:55043848:T:G (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs151095149


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.post596+ae089ad