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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.

rs11465648

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:102386980 (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.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00000 (0/85038, ALFA)
A=0.0092 (10/1092, HapMap)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL18R1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 2 NC_000002.12:g.102386980G>A
GRCh37.p13 chr 2 NC_000002.11:g.103003440G>A
Gene: IL18R1, interleukin 18 receptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IL18R1 transcript variant 3 NM_001371418.1:c.929G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 3 precursor NP_001358347.1:p.Ser310Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 9 NM_001371424.1:c.182G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 8 NP_001358353.1:p.Ser61Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 4 NM_001371419.1:c.929G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 4 precursor NP_001358348.1:p.Ser310Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 6 NM_001371421.1:c.464G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 6 NP_001358350.1:p.Ser155Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 2 NM_001282399.2:c.464G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 2 NP_001269328.1:p.Ser155Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 8 NM_001371423.1:c.182G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 8 NP_001358352.1:p.Ser61Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 5 NM_001371420.1:c.929G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 5 precursor NP_001358349.1:p.Ser310Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 7 NM_001371422.1:c.182G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 7 NP_001358351.1:p.Ser61Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant 1 NM_003855.5:c.929G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform 1 precursor NP_003846.1:p.Ser310Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant X1 XM_024453202.1:c.929G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform X1 XP_024308970.1:p.Ser310Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant X3 XM_024453204.1:c.929G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform X3 XP_024308972.1:p.Ser310Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant X4 XM_024453205.1:c.929G>A S [AGC] > N [AAC] Coding Sequence Variant
interleukin-18 receptor 1 isoform X4 XP_024308973.1:p.Ser310Asn S (Ser) > N (Asn) Missense Variant
IL18R1 transcript variant X6 XR_923054.3:n.1546G>A N/A Non Coding Transcript 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

ALFA Allele Frequency (New)
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 85038 G=1.00000 A=0.00000
European Sub 77036 G=1.00000 A=0.00000
African Sub 3338 G=1.0000 A=0.0000
African Others Sub 124 G=1.000 A=0.000
African American Sub 3214 G=1.0000 A=0.0000
Asian Sub 482 G=1.000 A=0.000
East Asian Sub 382 G=1.000 A=0.000
Other Asian Sub 100 G=1.00 A=0.00
Latin American 1 Sub 504 G=1.000 A=0.000
Latin American 2 Sub 1544 G=1.0000 A=0.0000
South Asian Sub 70 G=1.00 A=0.00
Other Sub 2064 G=1.0000 A=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
HapMap Global Study-wide 1092 G=0.9908 A=0.0092
HapMap American Sub 640 G=0.989 A=0.011
HapMap Europe Sub 170 G=0.982 A=0.018
HapMap Asian Sub 166 G=1.000 A=0.000
HapMap African Sub 116 G=1.000 A=0.000
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.p13 chr 2 NC_000002.12:g.102386980= NC_000002.12:g.102386980G>A
GRCh37.p13 chr 2 NC_000002.11:g.103003440= NC_000002.11:g.103003440G>A
IL18R1 transcript variant 1 NM_003855.5:c.929= NM_003855.5:c.929G>A
IL18R1 transcript variant 1 NM_003855.4:c.929= NM_003855.4:c.929G>A
IL18R1 transcript variant 1 NM_003855.3:c.929= NM_003855.3:c.929G>A
IL18R1 transcript NM_003855.2:c.929= NM_003855.2:c.929G>A
IL18R1 transcript variant X6 XR_923054.3:n.1546= XR_923054.3:n.1546G>A
IL18R1 transcript variant 2 NM_001282399.2:c.464= NM_001282399.2:c.464G>A
IL18R1 transcript variant 2 NM_001282399.1:c.464= NM_001282399.1:c.464G>A
IL18R1 transcript variant 3 NM_001371418.1:c.929= NM_001371418.1:c.929G>A
IL18R1 transcript variant 6 NM_001371421.1:c.464= NM_001371421.1:c.464G>A
IL18R1 transcript variant X3 XM_024453204.1:c.929= XM_024453204.1:c.929G>A
IL18R1 transcript variant X4 XM_024453205.1:c.929= XM_024453205.1:c.929G>A
IL18R1 transcript variant 7 NM_001371422.1:c.182= NM_001371422.1:c.182G>A
IL18R1 transcript variant 8 NM_001371423.1:c.182= NM_001371423.1:c.182G>A
IL18R1 transcript variant X1 XM_024453202.1:c.929= XM_024453202.1:c.929G>A
IL18R1 transcript variant 9 NM_001371424.1:c.182= NM_001371424.1:c.182G>A
IL18R1 transcript variant 4 NM_001371419.1:c.929= NM_001371419.1:c.929G>A
IL18R1 transcript variant 5 NM_001371420.1:c.929= NM_001371420.1:c.929G>A
interleukin-18 receptor 1 isoform 1 precursor NP_003846.1:p.Ser310= NP_003846.1:p.Ser310Asn
interleukin-18 receptor 1 isoform 2 NP_001269328.1:p.Ser155= NP_001269328.1:p.Ser155Asn
interleukin-18 receptor 1 isoform 3 precursor NP_001358347.1:p.Ser310= NP_001358347.1:p.Ser310Asn
interleukin-18 receptor 1 isoform 6 NP_001358350.1:p.Ser155= NP_001358350.1:p.Ser155Asn
interleukin-18 receptor 1 isoform X3 XP_024308972.1:p.Ser310= XP_024308972.1:p.Ser310Asn
interleukin-18 receptor 1 isoform X4 XP_024308973.1:p.Ser310= XP_024308973.1:p.Ser310Asn
interleukin-18 receptor 1 isoform 7 NP_001358351.1:p.Ser61= NP_001358351.1:p.Ser61Asn
interleukin-18 receptor 1 isoform 8 NP_001358352.1:p.Ser61= NP_001358352.1:p.Ser61Asn
interleukin-18 receptor 1 isoform X1 XP_024308970.1:p.Ser310= XP_024308970.1:p.Ser310Asn
interleukin-18 receptor 1 isoform 8 NP_001358353.1:p.Ser61= NP_001358353.1:p.Ser61Asn
interleukin-18 receptor 1 isoform 4 precursor NP_001358348.1:p.Ser310= NP_001358348.1:p.Ser310Asn
interleukin-18 receptor 1 isoform 5 precursor NP_001358349.1:p.Ser310= NP_001358349.1:p.Ser310Asn
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#.

33 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 IIPGA-WEISS-MARTINEZ ss15355541 Feb 28, 2004 (120)
2 ILLUMINA ss74855143 Dec 07, 2007 (129)
3 KRIBB_YJKIM ss119683727 Dec 01, 2009 (131)
4 ILLUMINA ss159978094 Dec 01, 2009 (131)
5 ILLUMINA ss171253394 Jul 04, 2010 (132)
6 ILLUMINA ss244272445 Jul 04, 2010 (132)
7 ILLUMINA ss479520422 May 04, 2012 (137)
8 ILLUMINA ss479524254 May 04, 2012 (137)
9 ILLUMINA ss479978186 Sep 08, 2015 (146)
10 ILLUMINA ss484559339 May 04, 2012 (137)
11 ILLUMINA ss536694629 Sep 08, 2015 (146)
12 ILLUMINA ss778383156 Sep 08, 2015 (146)
13 ILLUMINA ss782726333 Sep 08, 2015 (146)
14 ILLUMINA ss783693711 Sep 08, 2015 (146)
15 ILLUMINA ss831978003 Sep 08, 2015 (146)
16 ILLUMINA ss833838158 Sep 08, 2015 (146)
17 ILLUMINA ss1752302357 Sep 08, 2015 (146)
18 ILLUMINA ss2094908665 Dec 20, 2016 (150)
19 ILLUMINA ss2633650835 Nov 08, 2017 (151)
20 ILLUMINA ss3628127330 Oct 11, 2018 (152)
21 ILLUMINA ss3631615600 Oct 11, 2018 (152)
22 ILLUMINA ss3633210328 Oct 11, 2018 (152)
23 ILLUMINA ss3633922476 Oct 11, 2018 (152)
24 ILLUMINA ss3634779933 Oct 11, 2018 (152)
25 ILLUMINA ss3635608512 Oct 11, 2018 (152)
26 ILLUMINA ss3636467538 Oct 11, 2018 (152)
27 ILLUMINA ss3637360426 Oct 11, 2018 (152)
28 ILLUMINA ss3638277281 Oct 11, 2018 (152)
29 ILLUMINA ss3640487235 Oct 11, 2018 (152)
30 ILLUMINA ss3643245566 Oct 11, 2018 (152)
31 ILLUMINA ss3745079824 Jul 13, 2019 (153)
32 ILLUMINA ss3772576554 Jul 13, 2019 (153)
33 EVA ss4017011390 Apr 26, 2021 (155)
34 HapMap NC_000002.12 - 102386980 Apr 25, 2020 (154)
35 ALFA NC_000002.12 - 102386980 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
ss479520422, ss2094908665, ss3643245566 NC_000002.10:102369871:G:A NC_000002.12:102386979:G:A (self)
ss479524254, ss479978186, ss484559339, ss536694629, ss778383156, ss782726333, ss783693711, ss831978003, ss833838158, ss1752302357, ss2633650835, ss3628127330, ss3631615600, ss3633210328, ss3633922476, ss3634779933, ss3635608512, ss3636467538, ss3637360426, ss3638277281, ss3640487235, ss3745079824, ss3772576554, ss4017011390 NC_000002.11:103003439:G:A NC_000002.12:102386979:G:A (self)
1856374, 12172387309 NC_000002.12:102386979:G:A NC_000002.12:102386979:G:A (self)
ss15355541, ss74855143, ss119683727, ss159978094, ss171253394, ss244272445 NT_022171.15:7677268:G:A NC_000002.12:102386979: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 rs11465648

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.post596+ae089ad