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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.

rs1483478104

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:132571465 (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=0.000008 (2/264690, TOPMED)
T=0.000039 (6/151900, GnomAD_exome)
T=0.000014 (2/139984, GnomAD) (+ 1 more)
T=0.00005 (2/39898, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBRSL1 : Missense 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 39898 C=0.99995 T=0.00005 0.9999 0.0 0.0001 0
European Sub 31046 C=0.99994 T=0.00006 0.999871 0.0 0.000129 0
African Sub 2918 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2804 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 500 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 628 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 4596 C=1.0000 T=0.0000 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 C=0.999992 T=0.000008
gnomAD - Exomes Global Study-wide 151900 C=0.999961 T=0.000039
gnomAD - Exomes European Sub 72210 C=0.99996 T=0.00004
gnomAD - Exomes Asian Sub 33762 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 24648 C=0.99988 T=0.00012
gnomAD - Exomes African Sub 8486 C=1.0000 T=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 8460 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 4334 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 139984 C=0.999986 T=0.000014
gnomAD - Genomes European Sub 75772 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 41984 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13646 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3312 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3126 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2144 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 39898 C=0.99995 T=0.00005
Allele Frequency Aggregator European Sub 31046 C=0.99994 T=0.00006
Allele Frequency Aggregator Other Sub 4596 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2918 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
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 12 NC_000012.12:g.132571465C>T
GRCh37.p13 chr 12 NC_000012.11:g.133148051C>T
Gene: FBRSL1, fibrosin like 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FBRSL1 transcript variant 2 NM_001367871.1:c.1377+234…

NM_001367871.1:c.1377+234C>T

 		N/A Intron Variant
FBRSL1 transcript variant 4 NM_001382740.1:c.1213+925…

NM_001382740.1:c.1213+925C>T

 		N/A Intron Variant
FBRSL1 transcript variant 5 NM_001382741.1:c. N/A Genic Downstream Transcript Variant
FBRSL1 transcript variant 6 NM_001382742.1:c. N/A Genic Downstream Transcript Variant
FBRSL1 transcript variant 7 NM_001382743.1:c. N/A Genic Downstream Transcript Variant
FBRSL1 transcript variant 1 NM_001142641.2:c.1372C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform 1 NP_001136113.1:p.His458Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant 3 NM_001382739.1:c.1372C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform 3 NP_001369668.1:p.His458Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant 8 NR_168498.1:n. N/A Genic Downstream Transcript Variant
FBRSL1 transcript variant X11 XM_005266176.5:c.1377+234…

XM_005266176.5:c.1377+234C>T

 		N/A Intron Variant
FBRSL1 transcript variant X7 XM_011534807.4:c.1377+234…

XM_011534807.4:c.1377+234C>T

 		N/A Intron Variant
FBRSL1 transcript variant X13 XM_011534809.4:c.1377+234…

XM_011534809.4:c.1377+234C>T

 		N/A Intron Variant
FBRSL1 transcript variant X9 XM_047429219.1:c.1374+234…

XM_047429219.1:c.1374+234C>T

 		N/A Intron Variant
FBRSL1 transcript variant X1 XM_011534803.4:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X1 XP_011533105.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X2 XM_011534804.4:c.1438C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X2 XP_011533106.1:p.His480Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X3 XM_005266171.5:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X3 XP_005266228.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X4 XM_005266173.5:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X4 XP_005266230.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X5 XM_011534805.4:c.1372C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X5 XP_011533107.1:p.His458Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X6 XM_011534806.4:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X6 XP_011533108.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X8 XM_011534808.4:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X8 XP_011533110.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X10 XM_005266175.5:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X10 XP_005266232.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X12 XM_005266177.5:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X12 XP_005266234.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X14 XM_011534810.4:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X14 XP_011533112.1:p.His481Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X15 XM_011534812.3:c.1144C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X15 XP_011533114.1:p.His382Tyr H (His) > Y (Tyr) Missense Variant
FBRSL1 transcript variant X16 XM_047429220.1:c.1441C>T H [CAC] > Y [TAC] Coding Sequence Variant
fibrosin-1-like protein isoform X16 XP_047285176.1:p.His481Tyr H (His) > Y (Tyr) Missense 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 12 NC_000012.12:g.132571465= NC_000012.12:g.132571465C>T
GRCh37.p13 chr 12 NC_000012.11:g.133148051= NC_000012.11:g.133148051C>T
FBRSL1 transcript variant X3 XM_005266171.5:c.1441= XM_005266171.5:c.1441C>T
FBRSL1 transcript variant X3 XM_005266171.4:c.1441= XM_005266171.4:c.1441C>T
FBRSL1 transcript variant X3 XM_005266171.3:c.1441= XM_005266171.3:c.1441C>T
FBRSL1 transcript variant X3 XM_005266171.2:c.1441= XM_005266171.2:c.1441C>T
FBRSL1 transcript variant X1 XM_005266171.1:c.1441= XM_005266171.1:c.1441C>T
FBRSL1 transcript variant X4 XM_005266173.5:c.1441= XM_005266173.5:c.1441C>T
FBRSL1 transcript variant X4 XM_005266173.4:c.1441= XM_005266173.4:c.1441C>T
FBRSL1 transcript variant X4 XM_005266173.3:c.1441= XM_005266173.3:c.1441C>T
FBRSL1 transcript variant X4 XM_005266173.2:c.1441= XM_005266173.2:c.1441C>T
FBRSL1 transcript variant X3 XM_005266173.1:c.1441= XM_005266173.1:c.1441C>T
FBRSL1 transcript variant X10 XM_005266175.5:c.1441= XM_005266175.5:c.1441C>T
FBRSL1 transcript variant X9 XM_005266175.4:c.1441= XM_005266175.4:c.1441C>T
FBRSL1 transcript variant X9 XM_005266175.3:c.1441= XM_005266175.3:c.1441C>T
FBRSL1 transcript variant X9 XM_005266175.2:c.1441= XM_005266175.2:c.1441C>T
FBRSL1 transcript variant X5 XM_005266175.1:c.1441= XM_005266175.1:c.1441C>T
FBRSL1 transcript variant X12 XM_005266177.5:c.1441= XM_005266177.5:c.1441C>T
FBRSL1 transcript variant X11 XM_005266177.4:c.1441= XM_005266177.4:c.1441C>T
FBRSL1 transcript variant X11 XM_005266177.3:c.1441= XM_005266177.3:c.1441C>T
FBRSL1 transcript variant X12 XM_005266177.2:c.1441= XM_005266177.2:c.1441C>T
FBRSL1 transcript variant X7 XM_005266177.1:c.1441= XM_005266177.1:c.1441C>T
FBRSL1 transcript variant X1 XM_011534803.4:c.1441= XM_011534803.4:c.1441C>T
FBRSL1 transcript variant X1 XM_011534803.3:c.1441= XM_011534803.3:c.1441C>T
FBRSL1 transcript variant X1 XM_011534803.2:c.1441= XM_011534803.2:c.1441C>T
FBRSL1 transcript variant X1 XM_011534803.1:c.1441= XM_011534803.1:c.1441C>T
FBRSL1 transcript variant X2 XM_011534804.4:c.1438= XM_011534804.4:c.1438C>T
FBRSL1 transcript variant X2 XM_011534804.3:c.1438= XM_011534804.3:c.1438C>T
FBRSL1 transcript variant X2 XM_011534804.2:c.1438= XM_011534804.2:c.1438C>T
FBRSL1 transcript variant X2 XM_011534804.1:c.1438= XM_011534804.1:c.1438C>T
FBRSL1 transcript variant X6 XM_011534806.4:c.1441= XM_011534806.4:c.1441C>T
FBRSL1 transcript variant X6 XM_011534806.3:c.1441= XM_011534806.3:c.1441C>T
FBRSL1 transcript variant X6 XM_011534806.2:c.1441= XM_011534806.2:c.1441C>T
FBRSL1 transcript variant X6 XM_011534806.1:c.1441= XM_011534806.1:c.1441C>T
FBRSL1 transcript variant X5 XM_011534805.4:c.1372= XM_011534805.4:c.1372C>T
FBRSL1 transcript variant X5 XM_011534805.3:c.1372= XM_011534805.3:c.1372C>T
FBRSL1 transcript variant X5 XM_011534805.2:c.1372= XM_011534805.2:c.1372C>T
FBRSL1 transcript variant X5 XM_011534805.1:c.1372= XM_011534805.1:c.1372C>T
FBRSL1 transcript variant X8 XM_011534808.4:c.1441= XM_011534808.4:c.1441C>T
FBRSL1 transcript variant X8 XM_011534808.3:c.1441= XM_011534808.3:c.1441C>T
FBRSL1 transcript variant X8 XM_011534808.2:c.1441= XM_011534808.2:c.1441C>T
FBRSL1 transcript variant X8 XM_011534808.1:c.1441= XM_011534808.1:c.1441C>T
FBRSL1 transcript variant X14 XM_011534810.4:c.1441= XM_011534810.4:c.1441C>T
FBRSL1 transcript variant X13 XM_011534810.3:c.1441= XM_011534810.3:c.1441C>T
FBRSL1 transcript variant X13 XM_011534810.2:c.1441= XM_011534810.2:c.1441C>T
FBRSL1 transcript variant X14 XM_011534810.1:c.1441= XM_011534810.1:c.1441C>T
FBRSL1 transcript variant X15 XM_011534812.3:c.1144= XM_011534812.3:c.1144C>T
FBRSL1 transcript variant X14 XM_011534812.2:c.1144= XM_011534812.2:c.1144C>T
FBRSL1 transcript variant X16 XM_011534812.1:c.1144= XM_011534812.1:c.1144C>T
FBRSL1 transcript variant 1 NM_001142641.2:c.1372= NM_001142641.2:c.1372C>T
FBRSL1 transcript NM_001142641.1:c.1372= NM_001142641.1:c.1372C>T
FBRSL1 transcript variant 3 NM_001382739.1:c.1372= NM_001382739.1:c.1372C>T
FBRSL1 transcript variant X16 XM_047429220.1:c.1441= XM_047429220.1:c.1441C>T
fibrosin-1-like protein isoform X3 XP_005266228.1:p.His481= XP_005266228.1:p.His481Tyr
fibrosin-1-like protein isoform X4 XP_005266230.1:p.His481= XP_005266230.1:p.His481Tyr
fibrosin-1-like protein isoform X10 XP_005266232.1:p.His481= XP_005266232.1:p.His481Tyr
fibrosin-1-like protein isoform X12 XP_005266234.1:p.His481= XP_005266234.1:p.His481Tyr
fibrosin-1-like protein isoform X1 XP_011533105.1:p.His481= XP_011533105.1:p.His481Tyr
fibrosin-1-like protein isoform X2 XP_011533106.1:p.His480= XP_011533106.1:p.His480Tyr
fibrosin-1-like protein isoform X6 XP_011533108.1:p.His481= XP_011533108.1:p.His481Tyr
fibrosin-1-like protein isoform X5 XP_011533107.1:p.His458= XP_011533107.1:p.His458Tyr
fibrosin-1-like protein isoform X8 XP_011533110.1:p.His481= XP_011533110.1:p.His481Tyr
fibrosin-1-like protein isoform X14 XP_011533112.1:p.His481= XP_011533112.1:p.His481Tyr
fibrosin-1-like protein isoform X15 XP_011533114.1:p.His382= XP_011533114.1:p.His382Tyr
fibrosin-1-like protein isoform 1 NP_001136113.1:p.His458= NP_001136113.1:p.His458Tyr
fibrosin-1-like protein isoform 3 NP_001369668.1:p.His458= NP_001369668.1:p.His458Tyr
fibrosin-1-like protein isoform X16 XP_047285176.1:p.His481= XP_047285176.1:p.His481Tyr
FBRSL1 transcript variant 2 NM_001367871.1:c.1377+234= NM_001367871.1:c.1377+234C>T
FBRSL1 transcript variant 4 NM_001382740.1:c.1213+925= NM_001382740.1:c.1213+925C>T
FBRSL1 transcript variant X6 XM_005266176.1:c.1377+234= XM_005266176.1:c.1377+234C>T
FBRSL1 transcript variant X11 XM_005266176.5:c.1377+234= XM_005266176.5:c.1377+234C>T
FBRSL1 transcript variant X7 XM_011534807.4:c.1377+234= XM_011534807.4:c.1377+234C>T
FBRSL1 transcript variant X13 XM_011534809.4:c.1377+234= XM_011534809.4:c.1377+234C>T
FBRSL1 transcript variant X9 XM_047429219.1:c.1374+234= XM_047429219.1:c.1374+234C>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#.

4 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740281772 Nov 08, 2017 (151)
2 GNOMAD ss2749007290 Nov 08, 2017 (151)
3 GNOMAD ss2917003679 Nov 08, 2017 (151)
4 TOPMED ss4938155457 Apr 26, 2021 (155)
5 gnomAD - Genomes NC_000012.12 - 132571465 Apr 26, 2021 (155)
6 gnomAD - Exomes NC_000012.11 - 133148051 Jul 13, 2019 (153)
7 TopMed NC_000012.12 - 132571465 Apr 26, 2021 (155)
8 ALFA NC_000012.12 - 132571465 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
9522746, ss2740281772, ss2749007290, ss2917003679 NC_000012.11:133148050:C:T NC_000012.12:132571464:C:T (self)
423959335, 153701114, 14862575341, ss4938155457 NC_000012.12:132571464:C:T NC_000012.12:132571464: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 rs1483478104

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