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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.

rs1484857735

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:121697757 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/251102, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GOLGB1 : 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 251102 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 135094 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48998 A=0.99998 G=0.00002
gnomAD - Exomes American Sub 34570 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16248 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6120 A=1.0000 G=0.0000
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 3 NC_000003.12:g.121697757A>G
GRCh37.p13 chr 3 NC_000003.11:g.121416604A>G
Gene: GOLGB1, golgin B1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GOLGB1 transcript variant 3 NM_001256487.2:c.2649T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 3 NP_001243416.1:p.Leu883= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant 7 NM_001366284.2:c.2526T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 7 NP_001353213.1:p.Leu842= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant 2 NM_004487.5:c.2751T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 2 NP_004478.3:p.Leu917= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant 1 NM_001256486.2:c.2766T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 1 NP_001243415.1:p.Leu922= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant 6 NM_001366283.2:c.2643T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 6 NP_001353212.1:p.Leu881= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant 5 NM_001366282.2:c.2766T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 5 NP_001353211.1:p.Leu922= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant 4 NM_001256488.2:c.2526T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 4 NP_001243417.1:p.Leu842= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant 8 NM_001389631.1:c.2631T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform 8 NP_001376560.1:p.Leu877= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X1 XM_005247371.5:c.2766T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X1 XP_005247428.1:p.Leu922= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X2 XM_011512699.4:c.2766T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X1 XP_011511001.1:p.Leu922= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X3 XM_006713588.3:c.2751T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X2 XP_006713651.1:p.Leu917= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X4 XM_047447987.1:c.2766T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X3 XP_047303943.1:p.Leu922= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X5 XM_017006189.2:c.2751T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X2 XP_016861678.1:p.Leu917= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X6 XM_047447988.1:c.2751T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X2 XP_047303944.1:p.Leu917= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X7 XM_006713589.3:c.2748T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X4 XP_006713652.1:p.Leu916= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X8 XM_017006190.2:c.2748T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X4 XP_016861679.1:p.Leu916= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X9 XM_047447989.1:c.2748T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X4 XP_047303945.1:p.Leu916= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X10 XM_047447990.1:c.2748T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X5 XP_047303946.1:p.Leu916= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X11 XM_047447991.1:c.2649T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X6 XP_047303947.1:p.Leu883= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X12 XM_005247373.3:c.2643T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X7 XP_005247430.1:p.Leu881= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X13 XM_017006191.2:c.2643T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X7 XP_016861680.1:p.Leu881= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X14 XM_047447992.1:c.2643T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X7 XP_047303948.1:p.Leu881= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X15 XM_006713591.3:c.2526T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X8 XP_006713654.1:p.Leu842= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X16 XM_047447993.1:c.2526T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X8 XP_047303949.1:p.Leu842= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X17 XM_047447994.1:c.2526T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X8 XP_047303950.1:p.Leu842= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X18 XM_047447995.1:c.2526T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X9 XP_047303951.1:p.Leu842= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X19 XM_017006195.2:c.2007T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X10 XP_016861684.1:p.Leu669= L (Leu) > L (Leu) Synonymous Variant
GOLGB1 transcript variant X20 XM_047447996.1:c.2766T>C L [CTT] > L [CTC] Coding Sequence Variant
golgin subfamily B member 1 isoform X11 XP_047303952.1:p.Leu922= L (Leu) > L (Leu) 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 A= G
GRCh38.p14 chr 3 NC_000003.12:g.121697757= NC_000003.12:g.121697757A>G
GRCh37.p13 chr 3 NC_000003.11:g.121416604= NC_000003.11:g.121416604A>G
GOLGB1 transcript variant X1 XM_005247371.5:c.2766= XM_005247371.5:c.2766T>C
GOLGB1 transcript variant X1 XM_005247371.4:c.2766= XM_005247371.4:c.2766T>C
GOLGB1 transcript variant X1 XM_005247371.3:c.2766= XM_005247371.3:c.2766T>C
GOLGB1 transcript variant X5 XM_005247371.2:c.2766= XM_005247371.2:c.2766T>C
GOLGB1 transcript variant X5 XM_005247371.1:c.2766= XM_005247371.1:c.2766T>C
GOLGB1 transcript variant 2 NM_004487.5:c.2751= NM_004487.5:c.2751T>C
GOLGB1 transcript variant 2 NM_004487.4:c.2751= NM_004487.4:c.2751T>C
GOLGB1 transcript variant X2 XM_011512699.4:c.2766= XM_011512699.4:c.2766T>C
GOLGB1 transcript variant X2 XM_011512699.3:c.2766= XM_011512699.3:c.2766T>C
GOLGB1 transcript variant X2 XM_011512699.2:c.2766= XM_011512699.2:c.2766T>C
GOLGB1 transcript variant X2 XM_011512699.1:c.2766= XM_011512699.1:c.2766T>C
GOLGB1 transcript variant X3 XM_006713588.3:c.2751= XM_006713588.3:c.2751T>C
GOLGB1 transcript variant X4 XM_006713588.2:c.2751= XM_006713588.2:c.2751T>C
GOLGB1 transcript variant X4 XM_006713588.1:c.2751= XM_006713588.1:c.2751T>C
GOLGB1 transcript variant X7 XM_006713589.3:c.2748= XM_006713589.3:c.2748T>C
GOLGB1 transcript variant X6 XM_006713589.2:c.2748= XM_006713589.2:c.2748T>C
GOLGB1 transcript variant X6 XM_006713589.1:c.2748= XM_006713589.1:c.2748T>C
GOLGB1 transcript variant X12 XM_005247373.3:c.2643= XM_005247373.3:c.2643T>C
GOLGB1 transcript variant X9 XM_005247373.2:c.2643= XM_005247373.2:c.2643T>C
GOLGB1 transcript variant X9 XM_005247373.1:c.2643= XM_005247373.1:c.2643T>C
GOLGB1 transcript variant X15 XM_006713591.3:c.2526= XM_006713591.3:c.2526T>C
GOLGB1 transcript variant X15 XM_006713591.2:c.2526= XM_006713591.2:c.2526T>C
GOLGB1 transcript variant X15 XM_006713591.1:c.2526= XM_006713591.1:c.2526T>C
GOLGB1 transcript variant X5 XM_017006189.2:c.2751= XM_017006189.2:c.2751T>C
GOLGB1 transcript variant X5 XM_017006189.1:c.2751= XM_017006189.1:c.2751T>C
GOLGB1 transcript variant X8 XM_017006190.2:c.2748= XM_017006190.2:c.2748T>C
GOLGB1 transcript variant X7 XM_017006190.1:c.2748= XM_017006190.1:c.2748T>C
GOLGB1 transcript variant X13 XM_017006191.2:c.2643= XM_017006191.2:c.2643T>C
GOLGB1 transcript variant X10 XM_017006191.1:c.2643= XM_017006191.1:c.2643T>C
GOLGB1 transcript variant 3 NM_001256487.2:c.2649= NM_001256487.2:c.2649T>C
GOLGB1 transcript variant 3 NM_001256487.1:c.2649= NM_001256487.1:c.2649T>C
GOLGB1 transcript variant 1 NM_001256486.2:c.2766= NM_001256486.2:c.2766T>C
GOLGB1 transcript variant 1 NM_001256486.1:c.2766= NM_001256486.1:c.2766T>C
GOLGB1 transcript variant 5 NM_001366282.2:c.2766= NM_001366282.2:c.2766T>C
GOLGB1 transcript variant 5 NM_001366282.1:c.2766= NM_001366282.1:c.2766T>C
GOLGB1 transcript variant 7 NM_001366284.2:c.2526= NM_001366284.2:c.2526T>C
GOLGB1 transcript variant 7 NM_001366284.1:c.2526= NM_001366284.1:c.2526T>C
GOLGB1 transcript variant X19 XM_017006195.2:c.2007= XM_017006195.2:c.2007T>C
GOLGB1 transcript variant X17 XM_017006195.1:c.2007= XM_017006195.1:c.2007T>C
GOLGB1 transcript variant 4 NM_001256488.2:c.2526= NM_001256488.2:c.2526T>C
GOLGB1 transcript variant 4 NM_001256488.1:c.2526= NM_001256488.1:c.2526T>C
GOLGB1 transcript variant 6 NM_001366283.2:c.2643= NM_001366283.2:c.2643T>C
GOLGB1 transcript variant 6 NM_001366283.1:c.2643= NM_001366283.1:c.2643T>C
GOLGB1 transcript variant X4 XM_047447987.1:c.2766= XM_047447987.1:c.2766T>C
GOLGB1 transcript variant X16 XM_047447993.1:c.2526= XM_047447993.1:c.2526T>C
GOLGB1 transcript variant 8 NM_001389631.1:c.2631= NM_001389631.1:c.2631T>C
GOLGB1 transcript variant X6 XM_047447988.1:c.2751= XM_047447988.1:c.2751T>C
GOLGB1 transcript variant X9 XM_047447989.1:c.2748= XM_047447989.1:c.2748T>C
GOLGB1 transcript variant X10 XM_047447990.1:c.2748= XM_047447990.1:c.2748T>C
GOLGB1 transcript variant X11 XM_047447991.1:c.2649= XM_047447991.1:c.2649T>C
GOLGB1 transcript variant X14 XM_047447992.1:c.2643= XM_047447992.1:c.2643T>C
GOLGB1 transcript variant X17 XM_047447994.1:c.2526= XM_047447994.1:c.2526T>C
GOLGB1 transcript variant X18 XM_047447995.1:c.2526= XM_047447995.1:c.2526T>C
GOLGB1 transcript variant X20 XM_047447996.1:c.2766= XM_047447996.1:c.2766T>C
golgin subfamily B member 1 isoform X1 XP_005247428.1:p.Leu922= XP_005247428.1:p.Leu922=
golgin subfamily B member 1 isoform 2 NP_004478.3:p.Leu917= NP_004478.3:p.Leu917=
golgin subfamily B member 1 isoform X1 XP_011511001.1:p.Leu922= XP_011511001.1:p.Leu922=
golgin subfamily B member 1 isoform X2 XP_006713651.1:p.Leu917= XP_006713651.1:p.Leu917=
golgin subfamily B member 1 isoform X4 XP_006713652.1:p.Leu916= XP_006713652.1:p.Leu916=
golgin subfamily B member 1 isoform X7 XP_005247430.1:p.Leu881= XP_005247430.1:p.Leu881=
golgin subfamily B member 1 isoform X8 XP_006713654.1:p.Leu842= XP_006713654.1:p.Leu842=
golgin subfamily B member 1 isoform X2 XP_016861678.1:p.Leu917= XP_016861678.1:p.Leu917=
golgin subfamily B member 1 isoform X4 XP_016861679.1:p.Leu916= XP_016861679.1:p.Leu916=
golgin subfamily B member 1 isoform X7 XP_016861680.1:p.Leu881= XP_016861680.1:p.Leu881=
golgin subfamily B member 1 isoform 3 NP_001243416.1:p.Leu883= NP_001243416.1:p.Leu883=
golgin subfamily B member 1 isoform 1 NP_001243415.1:p.Leu922= NP_001243415.1:p.Leu922=
golgin subfamily B member 1 isoform 5 NP_001353211.1:p.Leu922= NP_001353211.1:p.Leu922=
golgin subfamily B member 1 isoform 7 NP_001353213.1:p.Leu842= NP_001353213.1:p.Leu842=
golgin subfamily B member 1 isoform X10 XP_016861684.1:p.Leu669= XP_016861684.1:p.Leu669=
golgin subfamily B member 1 isoform 4 NP_001243417.1:p.Leu842= NP_001243417.1:p.Leu842=
golgin subfamily B member 1 isoform 6 NP_001353212.1:p.Leu881= NP_001353212.1:p.Leu881=
golgin subfamily B member 1 isoform X3 XP_047303943.1:p.Leu922= XP_047303943.1:p.Leu922=
golgin subfamily B member 1 isoform X8 XP_047303949.1:p.Leu842= XP_047303949.1:p.Leu842=
golgin subfamily B member 1 isoform 8 NP_001376560.1:p.Leu877= NP_001376560.1:p.Leu877=
golgin subfamily B member 1 isoform X2 XP_047303944.1:p.Leu917= XP_047303944.1:p.Leu917=
golgin subfamily B member 1 isoform X4 XP_047303945.1:p.Leu916= XP_047303945.1:p.Leu916=
golgin subfamily B member 1 isoform X5 XP_047303946.1:p.Leu916= XP_047303946.1:p.Leu916=
golgin subfamily B member 1 isoform X6 XP_047303947.1:p.Leu883= XP_047303947.1:p.Leu883=
golgin subfamily B member 1 isoform X7 XP_047303948.1:p.Leu881= XP_047303948.1:p.Leu881=
golgin subfamily B member 1 isoform X8 XP_047303950.1:p.Leu842= XP_047303950.1:p.Leu842=
golgin subfamily B member 1 isoform X9 XP_047303951.1:p.Leu842= XP_047303951.1:p.Leu842=
golgin subfamily B member 1 isoform X11 XP_047303952.1:p.Leu922= XP_047303952.1:p.Leu922=
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2733998947 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000003.11 - 121416604 Jul 13, 2019 (153)
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
3084978, ss2733998947 NC_000003.11:121416603:A:G NC_000003.12:121697756:A:G (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 rs1484857735

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