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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.

rs1489899701

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:37246893 (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 (1/264690, TOPMED)
C=0.000007 (1/140222, GnomAD)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACACA : 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 14050 T=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 C=0.000 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 T=0.999996 C=0.000004
gnomAD - Genomes Global Study-wide 140222 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75948 T=0.99999 C=0.00001
gnomAD - Genomes African Sub 42010 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13658 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=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 17 NC_000017.11:g.37246893T>C
ACACA RefSeqGene NG_023295.2:g.164919A>G
GRCh38.p14 chr 17 alt locus HSCHR17_7_CTG4 NT_187614.1:g.1482874T>C
GRCh37.p13 chr 17 NC_000017.10:g.35603809T>C
Gene: ACACA, acetyl-CoA carboxylase alpha (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ACACA transcript variant 1 NM_198834.3:c.2393A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 1 NP_942131.1:p.Lys798Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant 3 NM_198836.3:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 2 NP_942133.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant 4 NM_198837.2:c.2108A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 3 NP_942134.1:p.Lys703Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant 2 NM_198839.3:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 2 NP_942136.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant 5 NM_198838.2:c.2048A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 4 NP_942135.1:p.Lys683Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X14 XM_011524703.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_011523005.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X1 XM_006721853.2:c.2393A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X1 XP_006721916.1:p.Lys798Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X2 XM_011524701.2:c.2303A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X2 XP_011523003.1:p.Lys768Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X15 XM_047435878.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291834.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X16 XM_047435879.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291835.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X17 XM_047435880.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291836.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X18 XM_047435881.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291837.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X3 XM_047435882.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291838.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X19 XM_047435883.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291839.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X4 XM_047435884.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X4 XP_047291840.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X5 XM_047435885.1:c.2282A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X4 XP_047291841.1:p.Lys761Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X20 XM_047435886.1:c.2108A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X8 XP_047291842.1:p.Lys703Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X7 XM_047435888.1:c.2105A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X5 XP_047291844.1:p.Lys702Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X6 XM_047435889.1:c.2105A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X5 XP_047291845.1:p.Lys702Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X10 XM_047435890.1:c.2048A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X6 XP_047291846.1:p.Lys683Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X8 XM_005257267.6:c.2048A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X6 XP_005257324.1:p.Lys683Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X9 XM_011524704.3:c.2048A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X6 XP_011523006.1:p.Lys683Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X12 XM_047435891.1:c.2048A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X7 XP_047291847.1:p.Lys683Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X11 XM_047435892.1:c.2048A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X7 XP_047291848.1:p.Lys683Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X13 XM_047435893.1:c.2048A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X7 XP_047291849.1:p.Lys683Arg K (Lys) > R (Arg) Missense Variant
ACACA transcript variant X21 XM_047435894.1:c.2393A>G K [AAG] > R [AGG] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X9 XP_047291850.1:p.Lys798Arg K (Lys) > R (Arg) 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 T= C
GRCh38.p14 chr 17 NC_000017.11:g.37246893= NC_000017.11:g.37246893T>C
ACACA RefSeqGene NG_023295.2:g.164919= NG_023295.2:g.164919A>G
ACACA transcript variant 2 NM_198839.3:c.2282= NM_198839.3:c.2282A>G
ACACA transcript variant 2 NM_198839.2:c.2282= NM_198839.2:c.2282A>G
ACACA transcript variant 2 NM_198839.1:c.2282= NM_198839.1:c.2282A>G
ACACA transcript variant 1 NM_198834.3:c.2393= NM_198834.3:c.2393A>G
ACACA transcript variant 1 NM_198834.2:c.2393= NM_198834.2:c.2393A>G
ACACA transcript variant 1 NM_198834.1:c.2393= NM_198834.1:c.2393A>G
ACACA transcript variant 3 NM_198836.3:c.2282= NM_198836.3:c.2282A>G
ACACA transcript variant 3 NM_198836.2:c.2282= NM_198836.2:c.2282A>G
ACACA transcript variant 3 NM_198836.1:c.2282= NM_198836.1:c.2282A>G
ACACA transcript variant 5 NM_198838.2:c.2048= NM_198838.2:c.2048A>G
ACACA transcript variant 5 NM_198838.1:c.2048= NM_198838.1:c.2048A>G
ACACA transcript variant 4 NM_198837.2:c.2108= NM_198837.2:c.2108A>G
ACACA transcript variant 4 NM_198837.1:c.2108= NM_198837.1:c.2108A>G
GRCh38.p14 chr 17 alt locus HSCHR17_7_CTG4 NT_187614.1:g.1482874= NT_187614.1:g.1482874T>C
GRCh37.p13 chr 17 NC_000017.10:g.35603809= NC_000017.10:g.35603809T>C
ACACA transcript variant X8 XM_005257267.6:c.2048= XM_005257267.6:c.2048A>G
ACACA transcript variant X7 XM_005257267.5:c.2048= XM_005257267.5:c.2048A>G
ACACA transcript variant X7 XM_005257267.4:c.2048= XM_005257267.4:c.2048A>G
ACACA transcript variant X8 XM_005257267.3:c.2048= XM_005257267.3:c.2048A>G
ACACA transcript variant X2 XM_005257267.2:c.2048= XM_005257267.2:c.2048A>G
ACACA transcript variant X2 XM_005257267.1:c.2048= XM_005257267.1:c.2048A>G
ACACA transcript variant X9 XM_011524704.3:c.2048= XM_011524704.3:c.2048A>G
ACACA transcript variant X8 XM_011524704.2:c.2048= XM_011524704.2:c.2048A>G
ACACA transcript variant X9 XM_011524704.1:c.2048= XM_011524704.1:c.2048A>G
ACACA transcript variant 6 NM_000664.3:c.*2159= NM_000664.3:c.*2159A>G
ACACA transcript variant X1 XM_006721853.2:c.2393= XM_006721853.2:c.2393A>G
ACACA transcript variant X3 XM_006721853.1:c.2393= XM_006721853.1:c.2393A>G
ACACA transcript NM_000664.2:c.2282= NM_000664.2:c.2282A>G
ACACA transcript variant X2 XM_011524701.2:c.2303= XM_011524701.2:c.2303A>G
ACACA transcript variant X4 XM_011524701.1:c.2303= XM_011524701.1:c.2303A>G
ACACA transcript variant X16 XM_047435879.1:c.2282= XM_047435879.1:c.2282A>G
ACACA transcript variant X18 XM_047435881.1:c.2282= XM_047435881.1:c.2282A>G
ACACA transcript variant X19 XM_047435883.1:c.2282= XM_047435883.1:c.2282A>G
ACACA transcript variant X6 XM_047435889.1:c.2105= XM_047435889.1:c.2105A>G
ACACA transcript variant X20 XM_047435886.1:c.2108= XM_047435886.1:c.2108A>G
ACACA transcript variant X13 XM_047435893.1:c.2048= XM_047435893.1:c.2048A>G
ACACA transcript variant X12 XM_047435891.1:c.2048= XM_047435891.1:c.2048A>G
ACACA transcript variant X11 XM_047435892.1:c.2048= XM_047435892.1:c.2048A>G
ACACA transcript variant X7 XM_047435888.1:c.2105= XM_047435888.1:c.2105A>G
ACACA transcript NM_000664.1:c.2282= NM_000664.1:c.2282A>G
ACACA transcript variant X3 XM_047435882.1:c.2282= XM_047435882.1:c.2282A>G
ACACA transcript variant 7 NM_198835.1:c.*2159= NM_198835.1:c.*2159A>G
ACACA transcript variant X17 XM_047435880.1:c.2282= XM_047435880.1:c.2282A>G
ACACA transcript variant X15 XM_047435878.1:c.2282= XM_047435878.1:c.2282A>G
ACACA transcript variant X14 XM_011524703.1:c.2282= XM_011524703.1:c.2282A>G
ACACA transcript variant X5 XM_047435885.1:c.2282= XM_047435885.1:c.2282A>G
ACACA transcript variant X4 XM_047435884.1:c.2282= XM_047435884.1:c.2282A>G
ACACA transcript variant X10 XM_047435890.1:c.2048= XM_047435890.1:c.2048A>G
ACACA transcript variant X21 XM_047435894.1:c.2393= XM_047435894.1:c.2393A>G
acetyl-CoA carboxylase 1 isoform 2 NP_942136.1:p.Lys761= NP_942136.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform 1 NP_942131.1:p.Lys798= NP_942131.1:p.Lys798Arg
acetyl-CoA carboxylase 1 isoform 2 NP_942133.1:p.Lys761= NP_942133.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform 4 NP_942135.1:p.Lys683= NP_942135.1:p.Lys683Arg
acetyl-CoA carboxylase 1 isoform 3 NP_942134.1:p.Lys703= NP_942134.1:p.Lys703Arg
acetyl-CoA carboxylase 1 isoform X6 XP_005257324.1:p.Lys683= XP_005257324.1:p.Lys683Arg
acetyl-CoA carboxylase 1 isoform X6 XP_011523006.1:p.Lys683= XP_011523006.1:p.Lys683Arg
acetyl-CoA carboxylase 1 isoform X1 XP_006721916.1:p.Lys798= XP_006721916.1:p.Lys798Arg
acetyl-CoA carboxylase 1 isoform X2 XP_011523003.1:p.Lys768= XP_011523003.1:p.Lys768Arg
acetyl-CoA carboxylase 1 isoform X3 XP_047291835.1:p.Lys761= XP_047291835.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X3 XP_047291837.1:p.Lys761= XP_047291837.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X3 XP_047291839.1:p.Lys761= XP_047291839.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X5 XP_047291845.1:p.Lys702= XP_047291845.1:p.Lys702Arg
acetyl-CoA carboxylase 1 isoform X8 XP_047291842.1:p.Lys703= XP_047291842.1:p.Lys703Arg
acetyl-CoA carboxylase 1 isoform X7 XP_047291849.1:p.Lys683= XP_047291849.1:p.Lys683Arg
acetyl-CoA carboxylase 1 isoform X7 XP_047291847.1:p.Lys683= XP_047291847.1:p.Lys683Arg
acetyl-CoA carboxylase 1 isoform X7 XP_047291848.1:p.Lys683= XP_047291848.1:p.Lys683Arg
acetyl-CoA carboxylase 1 isoform X5 XP_047291844.1:p.Lys702= XP_047291844.1:p.Lys702Arg
acetyl-CoA carboxylase 1 isoform X3 XP_047291838.1:p.Lys761= XP_047291838.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X3 XP_047291836.1:p.Lys761= XP_047291836.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X3 XP_047291834.1:p.Lys761= XP_047291834.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X3 XP_011523005.1:p.Lys761= XP_011523005.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X4 XP_047291841.1:p.Lys761= XP_047291841.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X4 XP_047291840.1:p.Lys761= XP_047291840.1:p.Lys761Arg
acetyl-CoA carboxylase 1 isoform X6 XP_047291846.1:p.Lys683= XP_047291846.1:p.Lys683Arg
acetyl-CoA carboxylase 1 isoform X9 XP_047291850.1:p.Lys798= XP_047291850.1:p.Lys798Arg
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4310954449 Apr 27, 2021 (155)
2 TOPMED ss5034795419 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000017.11 - 37246893 Apr 27, 2021 (155)
4 TopMed NC_000017.11 - 37246893 Apr 27, 2021 (155)
5 ALFA NC_000017.11 - 37246893 Apr 27, 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
506215945, 250341081, 2708853981, ss4310954449, ss5034795419 NC_000017.11:37246892:T:C NC_000017.11:37246892:T:C (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 rs1489899701

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