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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.

rs202232001

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:50943349 (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=0.00004 (1/28258, 14KJPN)
C=0.00006 (1/16760, 8.3KJPN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RNASEH2B : 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
14KJPN JAPANESE Study-wide 28258 T=0.99996 C=0.00004
8.3KJPN JAPANESE Study-wide 16760 T=0.99994 C=0.00006
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 13 NC_000013.11:g.50943349T>C
GRCh37.p13 chr 13 NC_000013.10:g.51517485T>C
RNASEH2B RefSeqGene (LRG_279) NG_009055.1:g.38594T>C
Gene: RNASEH2B, ribonuclease H2 subunit B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RNASEH2B transcript variant 2 NM_001142279.2:c.465T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform 2 NP_001135751.1:p.Tyr155= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant 1 NM_024570.4:c.465T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform 1 NP_078846.2:p.Tyr155= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X1 XM_006719867.5:c.447T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X1 XP_006719930.1:p.Tyr149= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X2 XM_047430613.1:c.465T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X2 XP_047286569.1:p.Tyr155= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X3 XM_047430614.1:c.375T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X3 XP_047286570.1:p.Tyr125= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X4 XM_047430615.1:c.375T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X3 XP_047286571.1:p.Tyr125= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X5 XM_047430616.1:c.375T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X3 XP_047286572.1:p.Tyr125= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X6 XM_011535229.2:c.465T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X4 XP_011533531.1:p.Tyr155= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X6 XM_011535230.3:c.465T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X4 XP_011533532.1:p.Tyr155= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X7 XM_011535231.3:c.465T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X5 XP_011533533.1:p.Tyr155= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X8 XM_047430617.1:c.465T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X6 XP_047286573.1:p.Tyr155= Y (Tyr) > Y (Tyr) Synonymous Variant
RNASEH2B transcript variant X9 XM_047430618.1:c.57T>C Y [TAT] > Y [TAC] Coding Sequence Variant
ribonuclease H2 subunit B isoform X7 XP_047286574.1:p.Tyr19= Y (Tyr) > Y (Tyr) 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 13 NC_000013.11:g.50943349= NC_000013.11:g.50943349T>C
GRCh37.p13 chr 13 NC_000013.10:g.51517485= NC_000013.10:g.51517485T>C
RNASEH2B RefSeqGene (LRG_279) NG_009055.1:g.38594= NG_009055.1:g.38594T>C
RNASEH2B transcript variant 1 NM_024570.4:c.465= NM_024570.4:c.465T>C
RNASEH2B transcript variant 1 NM_024570.3:c.465= NM_024570.3:c.465T>C
RNASEH2B transcript variant 2 NM_001142279.2:c.465= NM_001142279.2:c.465T>C
RNASEH2B transcript variant 3 NM_001411023.1:c.465= NM_001411023.1:c.465T>C
RNASEH2B transcript variant X1 XM_006719867.5:c.447= XM_006719867.5:c.447T>C
RNASEH2B transcript variant X1 XM_006719867.4:c.447= XM_006719867.4:c.447T>C
RNASEH2B transcript variant X1 XM_006719867.3:c.447= XM_006719867.3:c.447T>C
RNASEH2B transcript variant X1 XM_006719867.2:c.447= XM_006719867.2:c.447T>C
RNASEH2B transcript variant X3 XM_006719867.1:c.447= XM_006719867.1:c.447T>C
RNASEH2B transcript variant X6 XM_011535230.3:c.465= XM_011535230.3:c.465T>C
RNASEH2B transcript variant X3 XM_011535230.2:c.465= XM_011535230.2:c.465T>C
RNASEH2B transcript variant X5 XM_011535230.1:c.465= XM_011535230.1:c.465T>C
RNASEH2B transcript variant X7 XM_011535231.3:c.465= XM_011535231.3:c.465T>C
RNASEH2B transcript variant X4 XM_011535231.2:c.465= XM_011535231.2:c.465T>C
RNASEH2B transcript variant X6 XM_011535231.1:c.465= XM_011535231.1:c.465T>C
RNASEH2B transcript variant X6 XM_011535229.2:c.465= XM_011535229.2:c.465T>C
RNASEH2B transcript variant X8 XM_047430617.1:c.465= XM_047430617.1:c.465T>C
RNASEH2B transcript variant X2 XM_047430613.1:c.465= XM_047430613.1:c.465T>C
RNASEH2B transcript variant X4 XM_047430615.1:c.375= XM_047430615.1:c.375T>C
RNASEH2B transcript variant X3 XM_047430614.1:c.375= XM_047430614.1:c.375T>C
RNASEH2B transcript variant X5 XM_047430616.1:c.375= XM_047430616.1:c.375T>C
RNASEH2B transcript variant X9 XM_047430618.1:c.57= XM_047430618.1:c.57T>C
ribonuclease H2 subunit B isoform 1 NP_078846.2:p.Tyr155= NP_078846.2:p.Tyr155=
ribonuclease H2 subunit B isoform 2 NP_001135751.1:p.Tyr155= NP_001135751.1:p.Tyr155=
ribonuclease H2 subunit B isoform X1 XP_006719930.1:p.Tyr149= XP_006719930.1:p.Tyr149=
ribonuclease H2 subunit B isoform X4 XP_011533532.1:p.Tyr155= XP_011533532.1:p.Tyr155=
ribonuclease H2 subunit B isoform X5 XP_011533533.1:p.Tyr155= XP_011533533.1:p.Tyr155=
ribonuclease H2 subunit B isoform X4 XP_011533531.1:p.Tyr155= XP_011533531.1:p.Tyr155=
ribonuclease H2 subunit B isoform X6 XP_047286573.1:p.Tyr155= XP_047286573.1:p.Tyr155=
ribonuclease H2 subunit B isoform X2 XP_047286569.1:p.Tyr155= XP_047286569.1:p.Tyr155=
ribonuclease H2 subunit B isoform X3 XP_047286571.1:p.Tyr125= XP_047286571.1:p.Tyr125=
ribonuclease H2 subunit B isoform X3 XP_047286570.1:p.Tyr125= XP_047286570.1:p.Tyr125=
ribonuclease H2 subunit B isoform X3 XP_047286572.1:p.Tyr125= XP_047286572.1:p.Tyr125=
ribonuclease H2 subunit B isoform X7 XP_047286574.1:p.Tyr19= XP_047286574.1:p.Tyr19=
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#.

4 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss489019827 May 04, 2012 (137)
2 TOMMO_GENOMICS ss5210013849 Apr 26, 2021 (155)
3 TOMMO_GENOMICS ss5761894719 Oct 16, 2022 (156)
4 EVA ss5925123655 Oct 16, 2022 (156)
5 8.3KJPN NC_000013.10 - 51517485 Apr 26, 2021 (155)
6 14KJPN NC_000013.11 - 50943349 Oct 16, 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
67983156, ss489019827, ss5210013849 NC_000013.10:51517484:T:C NC_000013.11:50943348:T:C (self)
95731823, ss5761894719, ss5925123655 NC_000013.11:50943348:T:C NC_000013.11:50943348: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 rs202232001

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.post761+d5e8e07