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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.

rs1488514255

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:49550775 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00005 (4/80142, GnomAD_exome)
T=0.00014 (4/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN) (+ 2 more)
T=0.0003 (1/2920, KOREAN)
T=0.0005 (1/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
C6orf141 : Non Coding Transcript 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 80142 C=0.99995 T=0.00005
gnomAD - Exomes European Sub 44688 C=1.00000 T=0.00000
gnomAD - Exomes Asian Sub 14266 C=0.99972 T=0.00028
gnomAD - Exomes American Sub 10028 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 7280 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 2214 C=1.0000 T=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 1666 C=1.0000 T=0.0000
14KJPN JAPANESE Study-wide 28258 C=0.99986 T=0.00014
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 T=0.00006
KOREAN population from KRGDB KOREAN Study-wide 2920 C=0.9997 T=0.0003
Korean Genome Project KOREAN Study-wide 1832 C=0.9995 T=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 6 NC_000006.12:g.49550775C>T
GRCh37.p13 chr 6 NC_000006.11:g.49518488C>T
Gene: C6orf141, chromosome 6 open reading frame 141 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
C6orf141 transcript variant 1 NM_001145652.2:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant 2 NR_146853.2:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 4 NR_146855.2:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 12 NR_146863.2:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 7 NR_146858.2:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 10 NR_146861.2:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 5 NR_146856.3:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 11 NR_146862.3:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 8 NR_146859.3:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 3 NR_146854.3:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 6 NR_146857.3:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 9 NR_146860.3:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant 13 NR_146864.3:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170591.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170575.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170593.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170570.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170566.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170588.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170580.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170578.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170571.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170563.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170572.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170581.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170586.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170569.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170583.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170589.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170564.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170579.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170584.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170574.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170576.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170587.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170573.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170568.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170567.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170585.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170565.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170592.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170582.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170590.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript NR_170577.1:n.108C>T N/A Non Coding Transcript Variant
C6orf141 transcript variant X1 XM_005248850.4:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X2 XM_006714997.3:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X3 XM_047418225.1:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X4 XM_047418226.1:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X9 XM_047418227.1:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X5 XM_047418228.1:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X6 XM_047418229.1:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X7 XM_005248853.3:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X8 XM_047418230.1:c.-18= N/A 5 Prime UTR Variant
C6orf141 transcript variant X10 XM_047418231.1:c.-18= N/A 5 Prime UTR 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 C= T
GRCh38.p14 chr 6 NC_000006.12:g.49550775= NC_000006.12:g.49550775C>T
GRCh37.p13 chr 6 NC_000006.11:g.49518488= NC_000006.11:g.49518488C>T
C6orf141 transcript variant X1 XM_005248850.4:c.-18= XM_005248850.4:c.-18C>T
C6orf141 transcript variant X1 XM_005248850.3:c.-18= XM_005248850.3:c.-18C>T
C6orf141 transcript variant X1 XM_005248850.2:c.-18= XM_005248850.2:c.-18C>T
C6orf141 transcript variant X1 XM_005248850.1:c.-18= XM_005248850.1:c.-18C>T
C6orf141 transcript variant X2 XM_006714997.3:c.-18= XM_006714997.3:c.-18C>T
C6orf141 transcript variant X2 XM_006714997.2:c.-18= XM_006714997.2:c.-18C>T
C6orf141 transcript variant X6 XM_006714997.1:c.-18= XM_006714997.1:c.-18C>T
C6orf141 transcript variant 6 NR_146857.3:n.108= NR_146857.3:n.108C>T
C6orf141 transcript variant 6 NR_146857.2:n.108= NR_146857.2:n.108C>T
C6orf141 transcript variant 6 NR_146857.1:n.376= NR_146857.1:n.376C>T
C6orf141 transcript variant 3 NR_146854.3:n.108= NR_146854.3:n.108C>T
C6orf141 transcript variant 3 NR_146854.2:n.108= NR_146854.2:n.108C>T
C6orf141 transcript variant 3 NR_146854.1:n.376= NR_146854.1:n.376C>T
C6orf141 transcript variant 9 NR_146860.3:n.108= NR_146860.3:n.108C>T
C6orf141 transcript variant 9 NR_146860.2:n.108= NR_146860.2:n.108C>T
C6orf141 transcript variant 9 NR_146860.1:n.376= NR_146860.1:n.376C>T
C6orf141 transcript variant X7 XM_005248853.3:c.-18= XM_005248853.3:c.-18C>T
C6orf141 transcript variant X5 XM_005248853.2:c.-18= XM_005248853.2:c.-18C>T
C6orf141 transcript variant X4 XM_005248853.1:c.-18= XM_005248853.1:c.-18C>T
C6orf141 transcript variant 11 NR_146862.3:n.108= NR_146862.3:n.108C>T
C6orf141 transcript variant 11 NR_146862.2:n.108= NR_146862.2:n.108C>T
C6orf141 transcript variant 11 NR_146862.1:n.376= NR_146862.1:n.376C>T
C6orf141 transcript variant 13 NR_146864.3:n.108= NR_146864.3:n.108C>T
C6orf141 transcript variant 13 NR_146864.2:n.108= NR_146864.2:n.108C>T
C6orf141 transcript variant 13 NR_146864.1:n.376= NR_146864.1:n.376C>T
C6orf141 transcript variant 5 NR_146856.3:n.108= NR_146856.3:n.108C>T
C6orf141 transcript variant 5 NR_146856.2:n.108= NR_146856.2:n.108C>T
C6orf141 transcript variant 5 NR_146856.1:n.376= NR_146856.1:n.376C>T
C6orf141 transcript variant 8 NR_146859.3:n.108= NR_146859.3:n.108C>T
C6orf141 transcript variant 8 NR_146859.2:n.108= NR_146859.2:n.108C>T
C6orf141 transcript variant 8 NR_146859.1:n.376= NR_146859.1:n.376C>T
C6orf141 transcript variant 10 NR_146861.2:n.108= NR_146861.2:n.108C>T
C6orf141 transcript variant 10 NR_146861.1:n.376= NR_146861.1:n.376C>T
C6orf141 transcript variant 12 NR_146863.2:n.108= NR_146863.2:n.108C>T
C6orf141 transcript variant 12 NR_146863.1:n.376= NR_146863.1:n.376C>T
C6orf141 transcript variant 2 NR_146853.2:n.108= NR_146853.2:n.108C>T
C6orf141 transcript variant 2 NR_146853.1:n.376= NR_146853.1:n.376C>T
C6orf141 transcript variant 7 NR_146858.2:n.108= NR_146858.2:n.108C>T
C6orf141 transcript variant 7 NR_146858.1:n.376= NR_146858.1:n.376C>T
C6orf141 transcript variant 4 NR_146855.2:n.108= NR_146855.2:n.108C>T
C6orf141 transcript variant 4 NR_146855.1:n.376= NR_146855.1:n.376C>T
C6orf141 transcript variant 1 NM_001145652.2:c.-18= NM_001145652.2:c.-18C>T
C6orf141 transcript variant 1 NM_001145652.1:c.-18= NM_001145652.1:c.-18C>T
C6orf141 transcript variant X6 XM_047418229.1:c.-18= XM_047418229.1:c.-18C>T
C6orf141 transcript variant X4 XM_047418226.1:c.-18= XM_047418226.1:c.-18C>T
C6orf141 transcript variant X3 XM_047418225.1:c.-18= XM_047418225.1:c.-18C>T
C6orf141 transcript variant X10 XM_047418231.1:c.-18= XM_047418231.1:c.-18C>T
C6orf141 transcript variant X9 XM_047418227.1:c.-18= XM_047418227.1:c.-18C>T
C6orf141 transcript NR_170591.1:n.108= NR_170591.1:n.108C>T
C6orf141 transcript NR_170573.1:n.108= NR_170573.1:n.108C>T
C6orf141 transcript NR_170575.1:n.108= NR_170575.1:n.108C>T
C6orf141 transcript variant X5 XM_047418228.1:c.-18= XM_047418228.1:c.-18C>T
C6orf141 transcript NR_170564.1:n.108= NR_170564.1:n.108C>T
C6orf141 transcript NR_170587.1:n.108= NR_170587.1:n.108C>T
C6orf141 transcript NR_170576.1:n.108= NR_170576.1:n.108C>T
C6orf141 transcript NR_170579.1:n.108= NR_170579.1:n.108C>T
C6orf141 transcript NR_170569.1:n.108= NR_170569.1:n.108C>T
C6orf141 transcript NR_170566.1:n.108= NR_170566.1:n.108C>T
C6orf141 transcript NR_170581.1:n.108= NR_170581.1:n.108C>T
C6orf141 transcript NR_170592.1:n.108= NR_170592.1:n.108C>T
C6orf141 transcript NR_170577.1:n.108= NR_170577.1:n.108C>T
C6orf141 transcript NR_170588.1:n.108= NR_170588.1:n.108C>T
C6orf141 transcript NR_170590.1:n.108= NR_170590.1:n.108C>T
C6orf141 transcript NR_170589.1:n.108= NR_170589.1:n.108C>T
C6orf141 transcript NR_170563.1:n.108= NR_170563.1:n.108C>T
C6orf141 transcript NR_170571.1:n.108= NR_170571.1:n.108C>T
C6orf141 transcript NR_170578.1:n.108= NR_170578.1:n.108C>T
C6orf141 transcript variant X8 XM_047418230.1:c.-18= XM_047418230.1:c.-18C>T
C6orf141 transcript NR_170565.1:n.108= NR_170565.1:n.108C>T
C6orf141 transcript NR_170568.1:n.108= NR_170568.1:n.108C>T
C6orf141 transcript NR_170570.1:n.108= NR_170570.1:n.108C>T
C6orf141 transcript NR_170580.1:n.108= NR_170580.1:n.108C>T
C6orf141 transcript NR_170583.1:n.108= NR_170583.1:n.108C>T
C6orf141 transcript NR_170567.1:n.108= NR_170567.1:n.108C>T
C6orf141 transcript NR_170572.1:n.108= NR_170572.1:n.108C>T
C6orf141 transcript NR_170584.1:n.108= NR_170584.1:n.108C>T
C6orf141 transcript NR_170585.1:n.108= NR_170585.1:n.108C>T
C6orf141 transcript NR_170574.1:n.108= NR_170574.1:n.108C>T
C6orf141 transcript NR_170586.1:n.108= NR_170586.1:n.108C>T
C6orf141 transcript NR_170582.1:n.108= NR_170582.1:n.108C>T
C6orf141 transcript NR_170593.1:n.108= NR_170593.1:n.108C>T
C6orf141 transcript NM_153344.1:c.-18= NM_153344.1:c.-18C>T
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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2735841602 Nov 08, 2017 (151)
2 KRGDB ss3911371598 Apr 26, 2020 (154)
3 KOGIC ss3959012457 Apr 26, 2020 (154)
4 TOMMO_GENOMICS ss5177455162 Apr 26, 2021 (155)
5 TOMMO_GENOMICS ss5715487161 Oct 13, 2022 (156)
6 gnomAD - Exomes NC_000006.11 - 49518488 Jul 13, 2019 (153)
7 KOREAN population from KRGDB NC_000006.11 - 49518488 Apr 26, 2020 (154)
8 Korean Genome Project NC_000006.12 - 49550775 Apr 26, 2020 (154)
9 8.3KJPN NC_000006.11 - 49518488 Apr 26, 2021 (155)
10 14KJPN NC_000006.12 - 49550775 Oct 13, 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
4986930, 18548992, 35424469, ss2735841602, ss3911371598, ss5177455162 NC_000006.11:49518487:C:T NC_000006.12:49550774:C:T (self)
15390458, 49324265, ss3959012457, ss5715487161 NC_000006.12:49550774:C:T NC_000006.12:49550774:C:T (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 rs1488514255

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