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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.

rs1461234796

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:102174634 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
A=0.000004 (1/249582, GnomAD_exome)
T=0.000007 (1/140120, GnomAD) (+ 2 more)
T=0.00000 (0/14050, ALFA)
A=0.0005 (1/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL1R1 : Missense Variant
IL1R1-AS1 : Intron 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 G=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 T=0.000 1.0 0.0 0.0 N/A


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=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 249582 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 134506 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48688 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34116 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16166 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10050 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6056 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140120 G=0.999993 T=0.000007
gnomAD - Genomes European Sub 75884 G=0.99999 T=0.00001
gnomAD - Genomes African Sub 41988 G=1.00000 T=0.00000
gnomAD - Genomes American Sub 13640 G=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 G=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 T=0.00
Korean Genome Project KOREAN Study-wide 1832 G=0.9995 A=0.0005
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 2 NC_000002.12:g.102174634G>A
GRCh38.p14 chr 2 NC_000002.12:g.102174634G>T
GRCh37.p13 chr 2 NC_000002.11:g.102791094G>A
GRCh37.p13 chr 2 NC_000002.11:g.102791094G>T
Gene: IL1R1, interleukin 1 receptor type 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IL1R1 transcript variant 10 NM_001320986.2:c. N/A Genic Downstream Transcript Variant
IL1R1 transcript variant 7 NM_001320983.1:c.607G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 3 NP_001307912.1:p.Val203Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 7 NM_001320983.1:c.607G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 3 NP_001307912.1:p.Val203Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 8 NM_001320984.1:c.490G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 4 NP_001307913.1:p.Val164Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 8 NM_001320984.1:c.490G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 4 NP_001307913.1:p.Val164Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 9 NM_001320985.1:c.334G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 5 NP_001307914.1:p.Val112Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 9 NM_001320985.1:c.334G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 5 NP_001307914.1:p.Val112Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 1 NM_000877.4:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_000868.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 1 NM_000877.4:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_000868.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 5 NM_001320981.2:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307910.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 5 NM_001320981.2:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307910.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 4 NM_001320980.2:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307909.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 4 NM_001320980.2:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307909.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 2 NM_001288706.2:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 2 precursor NP_001275635.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 2 NM_001288706.2:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 2 precursor NP_001275635.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 3 NM_001320978.2:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307907.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 3 NM_001320978.2:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307907.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant 6 NM_001320982.2:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307911.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant 6 NM_001320982.2:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform 1 precursor NP_001307911.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X3 XM_005263930.4:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_005263987.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X3 XM_005263930.4:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_005263987.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X1 XM_047444176.1:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300132.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X1 XM_047444176.1:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300132.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X2 XM_047444177.1:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300133.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X2 XM_047444177.1:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300133.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X4 XM_011511115.3:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_011509417.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X4 XM_011511115.3:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_011509417.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X5 XM_011511116.2:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_011509418.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X5 XM_011511116.2:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_011509418.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X6 XM_005263934.5:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_005263991.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X6 XM_005263934.5:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_005263991.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X7 XM_011511118.3:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_011509420.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X7 XM_011511118.3:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_011509420.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X8 XM_047444178.1:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300134.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X8 XM_047444178.1:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300134.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X9 XM_047444179.1:c.1039G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300135.1:p.Val347Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X9 XM_047444179.1:c.1039G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X1 XP_047300135.1:p.Val347Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X10 XM_047444180.1:c.607G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300136.1:p.Val203Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X10 XM_047444180.1:c.607G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300136.1:p.Val203Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X11 XM_047444181.1:c.607G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300137.1:p.Val203Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X11 XM_047444181.1:c.607G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300137.1:p.Val203Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X12 XM_047444182.1:c.607G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300138.1:p.Val203Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X12 XM_047444182.1:c.607G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300138.1:p.Val203Phe V (Val) > F (Phe) Missense Variant
IL1R1 transcript variant X13 XM_047444183.1:c.607G>A V [GTC] > I [ATC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300139.1:p.Val203Ile V (Val) > I (Ile) Missense Variant
IL1R1 transcript variant X13 XM_047444183.1:c.607G>T V [GTC] > F [TTC] Coding Sequence Variant
interleukin-1 receptor type 1 isoform X2 XP_047300139.1:p.Val203Phe V (Val) > F (Phe) Missense Variant
Gene: IL1R1-AS1, IL1R1 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IL1R1-AS1 transcript NR_174960.1:n. N/A Intron 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 T
GRCh38.p14 chr 2 NC_000002.12:g.102174634= NC_000002.12:g.102174634G>A NC_000002.12:g.102174634G>T
GRCh37.p13 chr 2 NC_000002.11:g.102791094= NC_000002.11:g.102791094G>A NC_000002.11:g.102791094G>T
IL1R1 transcript variant X6 XM_005263934.5:c.1039= XM_005263934.5:c.1039G>A XM_005263934.5:c.1039G>T
IL1R1 transcript variant X6 XM_005263934.4:c.1039= XM_005263934.4:c.1039G>A XM_005263934.4:c.1039G>T
IL1R1 transcript variant X10 XM_005263934.3:c.1039= XM_005263934.3:c.1039G>A XM_005263934.3:c.1039G>T
IL1R1 transcript variant X7 XM_005263934.2:c.1039= XM_005263934.2:c.1039G>A XM_005263934.2:c.1039G>T
IL1R1 transcript variant X7 XM_005263934.1:c.1039= XM_005263934.1:c.1039G>A XM_005263934.1:c.1039G>T
IL1R1 transcript variant 1 NM_000877.4:c.1039= NM_000877.4:c.1039G>A NM_000877.4:c.1039G>T
IL1R1 transcript variant 1 NM_000877.3:c.1039= NM_000877.3:c.1039G>A NM_000877.3:c.1039G>T
IL1R1 transcript NM_000877.2:c.1039= NM_000877.2:c.1039G>A NM_000877.2:c.1039G>T
IL1R1 transcript variant X3 XM_005263930.4:c.1039= XM_005263930.4:c.1039G>A XM_005263930.4:c.1039G>T
IL1R1 transcript variant X2 XM_005263930.3:c.1039= XM_005263930.3:c.1039G>A XM_005263930.3:c.1039G>T
IL1R1 transcript variant X3 XM_005263930.2:c.1039= XM_005263930.2:c.1039G>A XM_005263930.2:c.1039G>T
IL1R1 transcript variant X3 XM_005263930.1:c.1039= XM_005263930.1:c.1039G>A XM_005263930.1:c.1039G>T
IL1R1 transcript variant X7 XM_011511118.3:c.1039= XM_011511118.3:c.1039G>A XM_011511118.3:c.1039G>T
IL1R1 transcript variant X7 XM_011511118.2:c.1039= XM_011511118.2:c.1039G>A XM_011511118.2:c.1039G>T
IL1R1 transcript variant X11 XM_011511118.1:c.1039= XM_011511118.1:c.1039G>A XM_011511118.1:c.1039G>T
IL1R1 transcript variant X4 XM_011511115.3:c.1039= XM_011511115.3:c.1039G>A XM_011511115.3:c.1039G>T
IL1R1 transcript variant X2 XM_011511115.2:c.1039= XM_011511115.2:c.1039G>A XM_011511115.2:c.1039G>T
IL1R1 transcript variant X7 XM_011511115.1:c.1039= XM_011511115.1:c.1039G>A XM_011511115.1:c.1039G>T
IL1R1 transcript variant 4 NM_001320980.2:c.1039= NM_001320980.2:c.1039G>A NM_001320980.2:c.1039G>T
IL1R1 transcript variant 4 NM_001320980.1:c.1039= NM_001320980.1:c.1039G>A NM_001320980.1:c.1039G>T
IL1R1 transcript variant 6 NM_001320982.2:c.1039= NM_001320982.2:c.1039G>A NM_001320982.2:c.1039G>T
IL1R1 transcript variant 6 NM_001320982.1:c.1039= NM_001320982.1:c.1039G>A NM_001320982.1:c.1039G>T
IL1R1 transcript variant 3 NM_001320978.2:c.1039= NM_001320978.2:c.1039G>A NM_001320978.2:c.1039G>T
IL1R1 transcript variant 3 NM_001320978.1:c.1039= NM_001320978.1:c.1039G>A NM_001320978.1:c.1039G>T
IL1R1 transcript variant 5 NM_001320981.2:c.1039= NM_001320981.2:c.1039G>A NM_001320981.2:c.1039G>T
IL1R1 transcript variant 5 NM_001320981.1:c.1039= NM_001320981.1:c.1039G>A NM_001320981.1:c.1039G>T
IL1R1 transcript variant X5 XM_011511116.2:c.1039= XM_011511116.2:c.1039G>A XM_011511116.2:c.1039G>T
IL1R1 transcript variant X4 XM_011511116.1:c.1039= XM_011511116.1:c.1039G>A XM_011511116.1:c.1039G>T
IL1R1 transcript variant 2 NM_001288706.2:c.1039= NM_001288706.2:c.1039G>A NM_001288706.2:c.1039G>T
IL1R1 transcript variant 2 NM_001288706.1:c.1039= NM_001288706.1:c.1039G>A NM_001288706.1:c.1039G>T
IL1R1 transcript variant X10 XM_047444180.1:c.607= XM_047444180.1:c.607G>A XM_047444180.1:c.607G>T
IL1R1 transcript variant X9 XM_047444179.1:c.1039= XM_047444179.1:c.1039G>A XM_047444179.1:c.1039G>T
IL1R1 transcript variant X8 XM_047444178.1:c.1039= XM_047444178.1:c.1039G>A XM_047444178.1:c.1039G>T
IL1R1 transcript variant X11 XM_047444181.1:c.607= XM_047444181.1:c.607G>A XM_047444181.1:c.607G>T
IL1R1 transcript variant X13 XM_047444183.1:c.607= XM_047444183.1:c.607G>A XM_047444183.1:c.607G>T
IL1R1 transcript variant X2 XM_047444177.1:c.1039= XM_047444177.1:c.1039G>A XM_047444177.1:c.1039G>T
IL1R1 transcript variant X1 XM_047444176.1:c.1039= XM_047444176.1:c.1039G>A XM_047444176.1:c.1039G>T
IL1R1 transcript variant X12 XM_047444182.1:c.607= XM_047444182.1:c.607G>A XM_047444182.1:c.607G>T
IL1R1 transcript variant 7 NM_001320983.1:c.607= NM_001320983.1:c.607G>A NM_001320983.1:c.607G>T
IL1R1 transcript variant 9 NM_001320985.1:c.334= NM_001320985.1:c.334G>A NM_001320985.1:c.334G>T
IL1R1 transcript variant 8 NM_001320984.1:c.490= NM_001320984.1:c.490G>A NM_001320984.1:c.490G>T
interleukin-1 receptor type 1 isoform X1 XP_005263991.1:p.Val347= XP_005263991.1:p.Val347Ile XP_005263991.1:p.Val347Phe
interleukin-1 receptor type 1 isoform 1 precursor NP_000868.1:p.Val347= NP_000868.1:p.Val347Ile NP_000868.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X1 XP_005263987.1:p.Val347= XP_005263987.1:p.Val347Ile XP_005263987.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X1 XP_011509420.1:p.Val347= XP_011509420.1:p.Val347Ile XP_011509420.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X1 XP_011509417.1:p.Val347= XP_011509417.1:p.Val347Ile XP_011509417.1:p.Val347Phe
interleukin-1 receptor type 1 isoform 1 precursor NP_001307909.1:p.Val347= NP_001307909.1:p.Val347Ile NP_001307909.1:p.Val347Phe
interleukin-1 receptor type 1 isoform 1 precursor NP_001307911.1:p.Val347= NP_001307911.1:p.Val347Ile NP_001307911.1:p.Val347Phe
interleukin-1 receptor type 1 isoform 1 precursor NP_001307907.1:p.Val347= NP_001307907.1:p.Val347Ile NP_001307907.1:p.Val347Phe
interleukin-1 receptor type 1 isoform 1 precursor NP_001307910.1:p.Val347= NP_001307910.1:p.Val347Ile NP_001307910.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X1 XP_011509418.1:p.Val347= XP_011509418.1:p.Val347Ile XP_011509418.1:p.Val347Phe
interleukin-1 receptor type 1 isoform 2 precursor NP_001275635.1:p.Val347= NP_001275635.1:p.Val347Ile NP_001275635.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X2 XP_047300136.1:p.Val203= XP_047300136.1:p.Val203Ile XP_047300136.1:p.Val203Phe
interleukin-1 receptor type 1 isoform X1 XP_047300135.1:p.Val347= XP_047300135.1:p.Val347Ile XP_047300135.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X1 XP_047300134.1:p.Val347= XP_047300134.1:p.Val347Ile XP_047300134.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X2 XP_047300137.1:p.Val203= XP_047300137.1:p.Val203Ile XP_047300137.1:p.Val203Phe
interleukin-1 receptor type 1 isoform X2 XP_047300139.1:p.Val203= XP_047300139.1:p.Val203Ile XP_047300139.1:p.Val203Phe
interleukin-1 receptor type 1 isoform X1 XP_047300133.1:p.Val347= XP_047300133.1:p.Val347Ile XP_047300133.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X1 XP_047300132.1:p.Val347= XP_047300132.1:p.Val347Ile XP_047300132.1:p.Val347Phe
interleukin-1 receptor type 1 isoform X2 XP_047300138.1:p.Val203= XP_047300138.1:p.Val203Ile XP_047300138.1:p.Val203Phe
interleukin-1 receptor type 1 isoform 3 NP_001307912.1:p.Val203= NP_001307912.1:p.Val203Ile NP_001307912.1:p.Val203Phe
interleukin-1 receptor type 1 isoform 5 NP_001307914.1:p.Val112= NP_001307914.1:p.Val112Ile NP_001307914.1:p.Val112Phe
interleukin-1 receptor type 1 isoform 4 NP_001307913.1:p.Val164= NP_001307913.1:p.Val164Ile NP_001307913.1:p.Val164Phe
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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#.

6 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2732883644 Nov 08, 2017 (151)
2 KOEX ss3029649087 Nov 08, 2017 (151)
3 KOGIC ss3948553760 Apr 25, 2020 (154)
4 VINODS ss4020155070 Apr 26, 2021 (155)
5 GNOMAD ss4047254689 Apr 26, 2021 (155)
6 TOPMED ss4516962282 Apr 26, 2021 (155)
7 gnomAD - Genomes NC_000002.12 - 102174634 Apr 26, 2021 (155)
8 gnomAD - Exomes NC_000002.11 - 102791094 Jul 13, 2019 (153)
9 Korean Genome Project NC_000002.12 - 102174634 Apr 25, 2020 (154)
10 TopMed NC_000002.12 - 102174634 Apr 26, 2021 (155)
11 ALFA NC_000002.12 - 102174634 Apr 26, 2021 (155)
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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
1939469, ss2732883644, ss3029649087 NC_000002.11:102791093:G:A NC_000002.12:102174633:G:A (self)
4931761, ss3948553760, ss4020155070 NC_000002.12:102174633:G:A NC_000002.12:102174633:G:A (self)
67870904, 320785161, 2070328534, ss4047254689, ss4516962282 NC_000002.12:102174633:G:T NC_000002.12:102174633:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1461234796

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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
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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.post820+afb47a3d