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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:777870 (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
C=0.001220 (323/264690, TOPMED)
C=0.001188 (166/139774, GnomAD)
C=0.00053 (10/18890, ALFA) (+ 7 more)
C=0.09833 (1648/16760, 8.3KJPN)
C=0.0080 (40/5008, 1000G)
C=0.0253 (74/2930, KOREAN)
G=0.50 (7/14, SGDP_PRJ)
C=0.50 (7/14, SGDP_PRJ)
G=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC01409 : 2KB Upstream Variant
LOC100288069 : Intron Variant
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 G=0.99947 C=0.00053
European Sub 14286 G=0.99965 C=0.00035
African Sub 2946 G=1.0000 C=0.0000
African Others Sub 114 G=1.000 C=0.000
African American Sub 2832 G=1.0000 C=0.0000
Asian Sub 112 G=0.973 C=0.027
East Asian Sub 86 G=0.97 C=0.03
Other Asian Sub 26 G=1.00 C=0.00
Latin American 1 Sub 146 G=1.000 C=0.000
Latin American 2 Sub 610 G=0.998 C=0.002
South Asian Sub 98 G=1.00 C=0.00
Other Sub 692 G=0.999 C=0.001


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 G=0.998780 C=0.001220
gnomAD - Genomes Global Study-wide 139774 G=0.998812 C=0.001188
gnomAD - Genomes European Sub 75770 G=0.99934 C=0.00066
gnomAD - Genomes African Sub 41828 G=0.99993 C=0.00007
gnomAD - Genomes American Sub 13592 G=0.99963 C=0.00037
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3124 G=0.9680 C=0.0320
gnomAD - Genomes Other Sub 2140 G=0.9963 C=0.0037
Allele Frequency Aggregator Total Global 18890 G=0.99947 C=0.00053
Allele Frequency Aggregator European Sub 14286 G=0.99965 C=0.00035
Allele Frequency Aggregator African Sub 2946 G=1.0000 C=0.0000
Allele Frequency Aggregator Other Sub 692 G=0.999 C=0.001
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.998 C=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.973 C=0.027
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.90167 C=0.09833
1000Genomes Global Study-wide 5008 G=0.9920 C=0.0080
1000Genomes African Sub 1322 G=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 G=0.9623 C=0.0377
1000Genomes Europe Sub 1006 G=0.9990 C=0.0010
1000Genomes South Asian Sub 978 G=0.999 C=0.001
1000Genomes American Sub 694 G=1.000 C=0.000
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9747 C=0.0253
SGDP_PRJ Global Study-wide 14 G=0.50 C=0.50
Siberian Global Study-wide 2 G=0.5 C=0.5

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.777870G>C
GRCh37.p13 chr 1 NC_000001.10:g.713250G>C
Gene: LOC100288069, uncharacterized LOC100288069 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100288069 transcript NR_168328.1:n. N/A Intron Variant
Gene: LINC01409, uncharacterized LINC01409 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LINC01409 transcript variant X1 XR_002958522.1:n. N/A Upstream Transcript Variant
LINC01409 transcript variant X5 XR_002958525.1:n. N/A Upstream Transcript Variant
LINC01409 transcript variant X4 XR_946806.3:n. N/A Upstream Transcript Variant
LINC01409 transcript variant X2 XR_002958523.1:n. N/A N/A
LINC01409 transcript variant X3 XR_002958524.1:n. N/A N/A

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

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= C
GRCh38.p13 chr 1 NC_000001.11:g.777870= NC_000001.11:g.777870G>C
GRCh37.p13 chr 1 NC_000001.10:g.713250= NC_000001.10:g.713250G>C

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#.

16 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss328357060 May 09, 2011 (134)
2 SSMP ss647515826 Apr 25, 2013 (138)
3 JMKIDD_LAB ss1067612306 Aug 21, 2014 (142)
4 1000GENOMES ss1289337850 Aug 21, 2014 (142)
5 USC_VALOUEV ss2147483816 Dec 20, 2016 (150)
6 TOPMED ss2321500851 Dec 20, 2016 (150)
7 GRF ss2697373995 Nov 08, 2017 (151)
8 GNOMAD ss2750632616 Nov 08, 2017 (151)
9 SWEGEN ss2986147636 Nov 08, 2017 (151)
10 TOPMED ss3066387921 Nov 08, 2017 (151)
11 EVA ss3745720682 Jul 12, 2019 (153)
12 KHV_HUMAN_GENOMES ss3798743057 Jul 12, 2019 (153)
13 SGDP_PRJ ss3847993745 Apr 25, 2020 (154)
14 KRGDB ss3892833166 Apr 25, 2020 (154)
15 TOPMED ss4436421329 Apr 25, 2021 (155)
16 TOMMO_GENOMICS ss5142049244 Apr 25, 2021 (155)
17 1000Genomes NC_000001.10 - 713250 Oct 11, 2018 (152)
18 gnomAD - Genomes NC_000001.11 - 777870 Apr 25, 2021 (155)
19 KOREAN population from KRGDB NC_000001.10 - 713250 Apr 25, 2020 (154)
20 SGDP_PRJ NC_000001.10 - 713250 Apr 25, 2020 (154)
21 Siberian NC_000001.10 - 713250 Apr 25, 2020 (154)
22 8.3KJPN NC_000001.10 - 713250 Apr 25, 2021 (155)
23 TopMed NC_000001.11 - 777870 Apr 25, 2021 (155)
24 ALFA NC_000001.11 - 777870 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
2511, 10560, 10725, 170, 18551, ss328357060, ss647515826, ss1067612306, ss1289337850, ss2147483816, ss2321500851, ss2697373995, ss2750632616, ss2986147636, ss3745720682, ss3847993745, ss3892833166, ss5142049244 NC_000001.10:713249:G:C NC_000001.11:777869:G:C (self)
52881, 10093, 27664, 822472702, ss3066387921, ss3798743057, ss4436421329 NC_000001.11:777869:G:C NC_000001.11:777869:G:C (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 rs149143617


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.post629+eb05767