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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.

rs1483618874

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:70221798 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/248918, GnomAD_exome)
C=0.00014 (4/28258, 14KJPN)
C=0.00012 (2/16760, 8.3KJPN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SRSF11 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 248918 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 132918 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 49004 T=0.99998 C=0.00002
gnomAD - Exomes American Sub 34564 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 16248 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10068 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6116 T=1.0000 C=0.0000
14KJPN JAPANESE Study-wide 28258 T=0.99986 C=0.00014
8.3KJPN JAPANESE Study-wide 16760 T=0.99988 C=0.00012
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 1 NC_000001.11:g.70221798T>C
GRCh37.p13 chr 1 NC_000001.10:g.70687481T>C
Gene: SRSF11, serine and arginine rich splicing factor 11 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SRSF11 transcript variant 14 NM_001350616.2:c.-526= N/A 5 Prime UTR Variant
SRSF11 transcript variant 12 NM_001350614.2:c.-635= N/A 5 Prime UTR Variant
SRSF11 transcript variant 8 NM_001350610.2:c.-526= N/A 5 Prime UTR Variant
SRSF11 transcript variant 9 NM_001350611.2:c.-526= N/A 5 Prime UTR Variant
SRSF11 transcript variant 13 NM_001350615.2:c.-1368= N/A 5 Prime UTR Variant
SRSF11 transcript variant 10 NM_001350612.2:c.-635= N/A 5 Prime UTR Variant
SRSF11 transcript variant 11 NM_001350613.2:c.-526= N/A 5 Prime UTR Variant
SRSF11 transcript variant 4 NM_001350606.2:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 1 NP_001337535.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 2 NM_001190987.3:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 2 NP_001177916.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 5 NM_001350607.2:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 2 NP_001337536.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 1 NM_004768.5:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 1 NP_004759.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 3 NM_001350605.2:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 1 NP_001337534.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 6 NM_001350608.2:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 3 NP_001337537.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 7 NM_001350609.2:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 4 NP_001337538.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 17 NM_001394403.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 9 NP_001381332.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 20 NM_001394406.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 1 NP_001381335.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 18 NM_001394404.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 3 NP_001381333.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 22 NM_001394408.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 2 NP_001381337.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 19 NM_001394405.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 4 NP_001381334.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 16 NM_001394402.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 9 NP_001381331.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 21 NM_001394407.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform 2 NP_001381336.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant 15 NR_146810.2:n.419T>C N/A Non Coding Transcript Variant
SRSF11 transcript variant X8 XM_024450906.2:c. N/A Genic Upstream Transcript Variant
SRSF11 transcript variant X9 XM_047434536.1:c. N/A Genic Upstream Transcript Variant
SRSF11 transcript variant X1 XM_047434514.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X1 XP_047290470.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant X2 XM_047434516.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X1 XP_047290472.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant X3 XM_047434517.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X1 XP_047290473.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant X4 XM_047434518.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X2 XP_047290474.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant X5 XM_047434522.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X2 XP_047290478.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant X6 XM_047434523.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X3 XP_047290479.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant X7 XM_047434524.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X4 XP_047290480.1:p.Gly54= G (Gly) > G (Gly) Synonymous Variant
SRSF11 transcript variant X10 XM_047434541.1:c.162T>C G [GGT] > G [GGC] Coding Sequence Variant
serine/arginine-rich splicing factor 11 isoform X7 XP_047290497.1:p.Gly54= G (Gly) > G (Gly) Synonymous 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 T= C
GRCh38.p14 chr 1 NC_000001.11:g.70221798= NC_000001.11:g.70221798T>C
GRCh37.p13 chr 1 NC_000001.10:g.70687481= NC_000001.10:g.70687481T>C
SRSF11 transcript variant 1 NM_004768.5:c.162= NM_004768.5:c.162T>C
SRSF11 transcript variant 1 NM_004768.4:c.162= NM_004768.4:c.162T>C
SRSF11 transcript variant 1 NM_004768.3:c.162= NM_004768.3:c.162T>C
SRSF11 transcript variant 2 NM_001190987.3:c.162= NM_001190987.3:c.162T>C
SRSF11 transcript variant 2 NM_001190987.2:c.162= NM_001190987.2:c.162T>C
SRSF11 transcript variant 2 NM_001190987.1:c.162= NM_001190987.1:c.162T>C
SRSF11 transcript variant 13 NM_001350615.2:c.-1368= NM_001350615.2:c.-1368T>C
SRSF11 transcript variant 13 NM_001350615.1:c.-1368= NM_001350615.1:c.-1368T>C
SRSF11 transcript variant 10 NM_001350612.2:c.-635= NM_001350612.2:c.-635T>C
SRSF11 transcript variant 10 NM_001350612.1:c.-635= NM_001350612.1:c.-635T>C
SRSF11 transcript variant 12 NM_001350614.2:c.-635= NM_001350614.2:c.-635T>C
SRSF11 transcript variant 12 NM_001350614.1:c.-635= NM_001350614.1:c.-635T>C
SRSF11 transcript variant 8 NM_001350610.2:c.-526= NM_001350610.2:c.-526T>C
SRSF11 transcript variant 8 NM_001350610.1:c.-526= NM_001350610.1:c.-526T>C
SRSF11 transcript variant 9 NM_001350611.2:c.-526= NM_001350611.2:c.-526T>C
SRSF11 transcript variant 9 NM_001350611.1:c.-526= NM_001350611.1:c.-526T>C
SRSF11 transcript variant 11 NM_001350613.2:c.-526= NM_001350613.2:c.-526T>C
SRSF11 transcript variant 11 NM_001350613.1:c.-526= NM_001350613.1:c.-526T>C
SRSF11 transcript variant 14 NM_001350616.2:c.-526= NM_001350616.2:c.-526T>C
SRSF11 transcript variant 14 NM_001350616.1:c.-526= NM_001350616.1:c.-526T>C
SRSF11 transcript variant 15 NR_146810.2:n.419= NR_146810.2:n.419T>C
SRSF11 transcript variant 15 NR_146810.1:n.448= NR_146810.1:n.448T>C
SRSF11 transcript variant 3 NM_001350605.2:c.162= NM_001350605.2:c.162T>C
SRSF11 transcript variant 3 NM_001350605.1:c.162= NM_001350605.1:c.162T>C
SRSF11 transcript variant 6 NM_001350608.2:c.162= NM_001350608.2:c.162T>C
SRSF11 transcript variant 6 NM_001350608.1:c.162= NM_001350608.1:c.162T>C
SRSF11 transcript variant 7 NM_001350609.2:c.162= NM_001350609.2:c.162T>C
SRSF11 transcript variant 7 NM_001350609.1:c.162= NM_001350609.1:c.162T>C
SRSF11 transcript variant 5 NM_001350607.2:c.162= NM_001350607.2:c.162T>C
SRSF11 transcript variant 5 NM_001350607.1:c.162= NM_001350607.1:c.162T>C
SRSF11 transcript variant 4 NM_001350606.2:c.162= NM_001350606.2:c.162T>C
SRSF11 transcript variant 4 NM_001350606.1:c.162= NM_001350606.1:c.162T>C
SRSF11 transcript variant X1 XM_047434514.1:c.162= XM_047434514.1:c.162T>C
SRSF11 transcript variant X4 XM_047434518.1:c.162= XM_047434518.1:c.162T>C
SRSF11 transcript variant X6 XM_047434523.1:c.162= XM_047434523.1:c.162T>C
SRSF11 transcript variant X7 XM_047434524.1:c.162= XM_047434524.1:c.162T>C
SRSF11 transcript variant X2 XM_047434516.1:c.162= XM_047434516.1:c.162T>C
SRSF11 transcript variant X3 XM_047434517.1:c.162= XM_047434517.1:c.162T>C
SRSF11 transcript variant X10 XM_047434541.1:c.162= XM_047434541.1:c.162T>C
SRSF11 transcript variant 17 NM_001394403.1:c.162= NM_001394403.1:c.162T>C
SRSF11 transcript variant 19 NM_001394405.1:c.162= NM_001394405.1:c.162T>C
SRSF11 transcript variant 22 NM_001394408.1:c.162= NM_001394408.1:c.162T>C
SRSF11 transcript variant 16 NM_001394402.1:c.162= NM_001394402.1:c.162T>C
SRSF11 transcript variant X5 XM_047434522.1:c.162= XM_047434522.1:c.162T>C
SRSF11 transcript variant 18 NM_001394404.1:c.162= NM_001394404.1:c.162T>C
SRSF11 transcript variant 20 NM_001394406.1:c.162= NM_001394406.1:c.162T>C
SRSF11 transcript variant 21 NM_001394407.1:c.162= NM_001394407.1:c.162T>C
serine/arginine-rich splicing factor 11 isoform 1 NP_004759.1:p.Gly54= NP_004759.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 2 NP_001177916.1:p.Gly54= NP_001177916.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 1 NP_001337534.1:p.Gly54= NP_001337534.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 3 NP_001337537.1:p.Gly54= NP_001337537.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 4 NP_001337538.1:p.Gly54= NP_001337538.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 2 NP_001337536.1:p.Gly54= NP_001337536.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 1 NP_001337535.1:p.Gly54= NP_001337535.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X1 XP_047290470.1:p.Gly54= XP_047290470.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X2 XP_047290474.1:p.Gly54= XP_047290474.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X3 XP_047290479.1:p.Gly54= XP_047290479.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X4 XP_047290480.1:p.Gly54= XP_047290480.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X1 XP_047290472.1:p.Gly54= XP_047290472.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X1 XP_047290473.1:p.Gly54= XP_047290473.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X7 XP_047290497.1:p.Gly54= XP_047290497.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 9 NP_001381332.1:p.Gly54= NP_001381332.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 4 NP_001381334.1:p.Gly54= NP_001381334.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 2 NP_001381337.1:p.Gly54= NP_001381337.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 9 NP_001381331.1:p.Gly54= NP_001381331.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform X2 XP_047290478.1:p.Gly54= XP_047290478.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 3 NP_001381333.1:p.Gly54= NP_001381333.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 1 NP_001381335.1:p.Gly54= NP_001381335.1:p.Gly54=
serine/arginine-rich splicing factor 11 isoform 2 NP_001381336.1:p.Gly54= NP_001381336.1:p.Gly54=
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2731573345 Nov 08, 2017 (151)
2 TOMMO_GENOMICS ss5144419544 Apr 25, 2021 (155)
3 TOMMO_GENOMICS ss5669325796 Oct 12, 2022 (156)
4 gnomAD - Exomes NC_000001.10 - 70687481 Jul 12, 2019 (153)
5 8.3KJPN NC_000001.10 - 70687481 Apr 25, 2021 (155)
6 14KJPN NC_000001.11 - 70221798 Oct 12, 2022 (156)
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
592934, 2388851, ss2731573345, ss5144419544 NC_000001.10:70687480:T:C NC_000001.11:70221797:T:C (self)
3162900, ss5669325796 NC_000001.11:70221797:T:C NC_000001.11:70221797:T:C
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 rs1483618874

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.post820+afb47a3d