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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
chr16:87868482 (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.

C>G / C>T
Variation Type
SNV Single Nucleotide Variation
G=0.000021 (3/140264, GnomAD)
G=0.00101 (17/16760, 8.3KJPN)
G=0.00000 (0/14050, ALFA) (+ 3 more)
T=0.00000 (0/14050, ALFA)
G=0.0007 (2/2922, KOREAN)
G=0.0005 (1/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC7A5 : Intron 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 16 NC_000016.10:g.87868482C>G
GRCh38.p13 chr 16 NC_000016.10:g.87868482C>T
GRCh37.p13 chr 16 NC_000016.9:g.87902088C>G
GRCh37.p13 chr 16 NC_000016.9:g.87902088C>T
Gene: SLC7A5, solute carrier family 7 member 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC7A5 transcript NM_003486.7:c.538+403G>C N/A Intron Variant
SLC7A5 transcript variant X1 XM_017023735.1:c.538+403G…


N/A Intron Variant
SLC7A5 transcript variant X2 XM_017023736.1:c.538+403G…


N/A Intron Variant
SLC7A5 transcript variant X3 XM_006721286.3:c. N/A Genic Upstream Transcript Variant
SLC7A5 transcript variant X4 XM_017023737.2:c. N/A Genic Upstream Transcript 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 14050 C=1.00000 G=0.00000, T=0.00000
European Sub 9690 C=1.0000 G=0.0000, T=0.0000
African Sub 2898 C=1.0000 G=0.0000, T=0.0000
African Others Sub 114 C=1.000 G=0.000, T=0.000
African American Sub 2784 C=1.0000 G=0.0000, T=0.0000
Asian Sub 112 C=1.000 G=0.000, T=0.000
East Asian Sub 86 C=1.00 G=0.00, T=0.00
Other Asian Sub 26 C=1.00 G=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
South Asian Sub 98 C=1.00 G=0.00, T=0.00
Other Sub 496 C=1.000 G=0.000, T=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
gnomAD - Genomes Global Study-wide 140264 C=0.999979 G=0.000021
gnomAD - Genomes European Sub 75952 C=1.00000 G=0.00000
gnomAD - Genomes African Sub 42048 C=1.00000 G=0.00000
gnomAD - Genomes American Sub 13656 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3130 C=0.9990 G=0.0010
gnomAD - Genomes Other Sub 2154 C=1.0000 G=0.0000
8.3KJPN JAPANESE Study-wide 16760 C=0.99899 G=0.00101
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9993 G=0.0007
Korean Genome Project KOREAN Study-wide 1832 C=0.9995 G=0.0005

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 T
GRCh38.p13 chr 16 NC_000016.10:g.87868482= NC_000016.10:g.87868482C>G NC_000016.10:g.87868482C>T
GRCh37.p13 chr 16 NC_000016.9:g.87902088= NC_000016.9:g.87902088C>G NC_000016.9:g.87902088C>T
SLC7A5 transcript NM_003486.5:c.538+403= NM_003486.5:c.538+403G>C NM_003486.5:c.538+403G>A
SLC7A5 transcript NM_003486.7:c.538+403= NM_003486.7:c.538+403G>C NM_003486.7:c.538+403G>A
SLC7A5 transcript variant X1 XM_017023735.1:c.538+403= XM_017023735.1:c.538+403G>C XM_017023735.1:c.538+403G>A
SLC7A5 transcript variant X2 XM_017023736.1:c.538+403= XM_017023736.1:c.538+403G>C XM_017023736.1:c.538+403G>A

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#.

21 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss152536495 Dec 01, 2009 (131)
2 ILLUMINA ss159102649 Dec 01, 2009 (131)
3 ILLUMINA ss168871136 Jul 04, 2010 (132)
4 ILLUMINA ss479154465 Sep 08, 2015 (146)
5 ILLUMINA ss532729396 Sep 08, 2015 (146)
6 SSMP ss660876531 Apr 25, 2013 (138)
7 ILLUMINA ss832615445 Aug 21, 2014 (142)
8 ILLUMINA ss833206134 Aug 21, 2014 (142)
9 TOPMED ss2379464831 Dec 20, 2016 (150)
10 GNOMAD ss2946449957 Nov 08, 2017 (151)
11 TOPMED ss3254454424 Nov 08, 2017 (151)
12 TOPMED ss3254454425 Nov 08, 2017 (151)
13 ILLUMINA ss3627598148 Oct 12, 2018 (152)
14 ILLUMINA ss3636349211 Oct 12, 2018 (152)
15 ILLUMINA ss3638142967 Oct 12, 2018 (152)
16 EVA ss3754315444 Jul 13, 2019 (153)
17 KRGDB ss3934637273 Apr 27, 2020 (154)
18 KOGIC ss3978173692 Apr 27, 2020 (154)
19 TOPMED ss5025914019 Apr 27, 2021 (155)
20 TOPMED ss5025914020 Apr 27, 2021 (155)
21 TOMMO_GENOMICS ss5220956735 Apr 27, 2021 (155)
22 gnomAD - Genomes NC_000016.10 - 87868482 Apr 27, 2021 (155)
23 KOREAN population from KRGDB NC_000016.9 - 87902088 Apr 27, 2020 (154)
24 Korean Genome Project NC_000016.10 - 87868482 Apr 27, 2020 (154)
25 8.3KJPN NC_000016.9 - 87902088 Apr 27, 2021 (155)
26 TopMed

Submission ignored due to conflicting rows:
Row 241459680 (NC_000016.10:87868481:C:G 14/264690)
Row 241459681 (NC_000016.10:87868481:C:T 9/264690)

- Apr 27, 2021 (155)
27 TopMed

Submission ignored due to conflicting rows:
Row 241459680 (NC_000016.10:87868481:C:G 14/264690)
Row 241459681 (NC_000016.10:87868481:C:T 9/264690)

- Apr 27, 2021 (155)
28 ALFA NC_000016.10 - 87868482 Apr 27, 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).

Associated ID History Updated (Build)
rs386420626 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
41814667, 78926042, ss479154465, ss532729396, ss660876531, ss832615445, ss833206134, ss2946449957, ss3627598148, ss3636349211, ss3638142967, ss3754315444, ss3934637273, ss5220956735 NC_000016.9:87902087:C:G NC_000016.10:87868481:C:G (self)
498368221, 34551693, 150667798, 5510276652, ss3254454424, ss3978173692, ss5025914019 NC_000016.10:87868481:C:G NC_000016.10:87868481:C:G (self)
ss152536495, ss159102649, ss168871136 NT_010498.15:41516286:C:G NC_000016.10:87868481:C:G (self)
ss2379464831 NC_000016.9:87902087:C:T NC_000016.10:87868481:C:T (self)
150667798, 5510276652, ss3254454425, ss5025914020 NC_000016.10:87868481:C:T NC_000016.10:87868481:C:T (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 rs79562497


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