Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs201110464

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:9101666 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000234 (62/264690, TOPMED)
A=0.000307 (76/247928, GnomAD_exome)
A=0.000246 (27/109572, ExAC) (+ 3 more)
A=0.00043 (19/44410, ALFA)
A=0.0000 (0/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
A2M : Stop Gained
KLRG1 : Intron 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 44410 G=0.99957 A=0.00043, C=0.00000, T=0.00000
European Sub 32642 G=0.99969 A=0.00031, C=0.00000, T=0.00000
African Sub 3512 G=0.9997 A=0.0003, C=0.0000, T=0.0000
African Others Sub 122 G=1.000 A=0.000, C=0.000, T=0.000
African American Sub 3390 G=0.9997 A=0.0003, C=0.0000, T=0.0000
Asian Sub 168 G=1.000 A=0.000, C=0.000, T=0.000
East Asian Sub 112 G=1.000 A=0.000, C=0.000, T=0.000
Other Asian Sub 56 G=1.00 A=0.00, C=0.00, T=0.00
Latin American 1 Sub 500 G=1.000 A=0.000, C=0.000, T=0.000
Latin American 2 Sub 626 G=1.000 A=0.000, C=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00, T=0.00
Other Sub 6864 G=0.9988 A=0.0012, C=0.0000, T=0.0000


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 G=0.999766 A=0.000234
gnomAD - Exomes Global Study-wide 247928 G=0.999693 A=0.000307
gnomAD - Exomes European Sub 133908 G=0.999940 A=0.000060
gnomAD - Exomes Asian Sub 48306 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34268 G=0.99962 A=0.00038
gnomAD - Exomes African Sub 15400 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10014 G=0.99471 A=0.00529
gnomAD - Exomes Other Sub 6032 G=0.9997 A=0.0003
ExAC Global Study-wide 109572 G=0.999754 A=0.000246
ExAC Europe Sub 66836 G=0.99963 A=0.00037
ExAC Asian Sub 22804 G=1.00000 A=0.00000
ExAC American Sub 10060 G=0.99980 A=0.00020
ExAC African Sub 9048 G=1.0000 A=0.0000
ExAC Other Sub 824 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 44410 G=0.99957 A=0.00043, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 32642 G=0.99969 A=0.00031, C=0.00000, T=0.00000
Allele Frequency Aggregator Other Sub 6864 G=0.9988 A=0.0012, C=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 3512 G=0.9997 A=0.0003, C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 626 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00, T=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.0000 A=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 A=0.0003
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.9101666G>A
GRCh38.p14 chr 12 NC_000012.12:g.9101666G>C
GRCh38.p14 chr 12 NC_000012.12:g.9101666G>T
GRCh37.p13 chr 12 NC_000012.11:g.9254262G>A
GRCh37.p13 chr 12 NC_000012.11:g.9254262G>C
GRCh37.p13 chr 12 NC_000012.11:g.9254262G>T
A2M RefSeqGene (LRG_591) NG_011717.2:g.19297C>T
A2M RefSeqGene (LRG_591) NG_011717.2:g.19297C>G
A2M RefSeqGene (LRG_591) NG_011717.2:g.19297C>A
Gene: KLRG1, killer cell lectin like receptor G1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KLRG1 transcript variant 1 NM_001329099.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 3 NM_001329101.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 4 NM_001329102.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 5 NM_001329103.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 2 NM_005810.4:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 6 NR_137426.2:n. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 7 NR_137427.2:n. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 8 NR_137428.2:n. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant X2 XM_017018684.2:c.*34-3342…

XM_017018684.2:c.*34-33420G>A

 		N/A Intron Variant
KLRG1 transcript variant X3 XM_017018685.2:c.*33+4350…

XM_017018685.2:c.*33+43500G>A

 		N/A Intron Variant
KLRG1 transcript variant X4 XM_047428074.1:c.*33+4350…

XM_047428074.1:c.*33+43500G>A

 		N/A Intron Variant
KLRG1 transcript variant X1 XM_017018682.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant X5 XM_047428075.1:c. N/A Genic Downstream Transcript Variant
Gene: A2M, alpha-2-macroglobulin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
A2M transcript variant 2 NM_001347423.2:c.1275C>T Y [TAC] > Y [TAT] Coding Sequence Variant
alpha-2-macroglobulin isoform a precursor NP_001334352.2:p.Tyr425= Y (Tyr) > Y (Tyr) Synonymous Variant
A2M transcript variant 2 NM_001347423.2:c.1275C>G Y [TAC] > * [TAG] Coding Sequence Variant
alpha-2-macroglobulin isoform a precursor NP_001334352.2:p.Tyr425Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant 2 NM_001347423.2:c.1275C>A Y [TAC] > * [TAA] Coding Sequence Variant
alpha-2-macroglobulin isoform a precursor NP_001334352.2:p.Tyr425Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant 3 NM_001347424.2:c.975C>T Y [TAC] > Y [TAT] Coding Sequence Variant
alpha-2-macroglobulin isoform b NP_001334353.2:p.Tyr325= Y (Tyr) > Y (Tyr) Synonymous Variant
A2M transcript variant 3 NM_001347424.2:c.975C>G Y [TAC] > * [TAG] Coding Sequence Variant
alpha-2-macroglobulin isoform b NP_001334353.2:p.Tyr325Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant 3 NM_001347424.2:c.975C>A Y [TAC] > * [TAA] Coding Sequence Variant
alpha-2-macroglobulin isoform b NP_001334353.2:p.Tyr325Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant 1 NM_000014.6:c.1275C>T Y [TAC] > Y [TAT] Coding Sequence Variant
alpha-2-macroglobulin isoform a precursor NP_000005.3:p.Tyr425= Y (Tyr) > Y (Tyr) Synonymous Variant
A2M transcript variant 1 NM_000014.6:c.1275C>G Y [TAC] > * [TAG] Coding Sequence Variant
alpha-2-macroglobulin isoform a precursor NP_000005.3:p.Tyr425Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant 1 NM_000014.6:c.1275C>A Y [TAC] > * [TAA] Coding Sequence Variant
alpha-2-macroglobulin isoform a precursor NP_000005.3:p.Tyr425Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant 4 NM_001347425.2:c.825C>T Y [TAC] > Y [TAT] Coding Sequence Variant
alpha-2-macroglobulin isoform c NP_001334354.2:p.Tyr275= Y (Tyr) > Y (Tyr) Synonymous Variant
A2M transcript variant 4 NM_001347425.2:c.825C>G Y [TAC] > * [TAG] Coding Sequence Variant
alpha-2-macroglobulin isoform c NP_001334354.2:p.Tyr275Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant 4 NM_001347425.2:c.825C>A Y [TAC] > * [TAA] Coding Sequence Variant
alpha-2-macroglobulin isoform c NP_001334354.2:p.Tyr275Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant X1 XM_006719056.4:c.1275C>T Y [TAC] > Y [TAT] Coding Sequence Variant
alpha-2-macroglobulin isoform X1 XP_006719119.1:p.Tyr425= Y (Tyr) > Y (Tyr) Synonymous Variant
A2M transcript variant X1 XM_006719056.4:c.1275C>G Y [TAC] > * [TAG] Coding Sequence Variant
alpha-2-macroglobulin isoform X1 XP_006719119.1:p.Tyr425Ter Y (Tyr) > * (Ter) Stop Gained
A2M transcript variant X1 XM_006719056.4:c.1275C>A Y [TAC] > * [TAA] Coding Sequence Variant
alpha-2-macroglobulin isoform X1 XP_006719119.1:p.Tyr425Ter Y (Tyr) > * (Ter) Stop Gained
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 G= A C T
GRCh38.p14 chr 12 NC_000012.12:g.9101666= NC_000012.12:g.9101666G>A NC_000012.12:g.9101666G>C NC_000012.12:g.9101666G>T
GRCh37.p13 chr 12 NC_000012.11:g.9254262= NC_000012.11:g.9254262G>A NC_000012.11:g.9254262G>C NC_000012.11:g.9254262G>T
A2M RefSeqGene (LRG_591) NG_011717.2:g.19297= NG_011717.2:g.19297C>T NG_011717.2:g.19297C>G NG_011717.2:g.19297C>A
A2M transcript variant 1 NM_000014.6:c.1275= NM_000014.6:c.1275C>T NM_000014.6:c.1275C>G NM_000014.6:c.1275C>A
A2M transcript variant 1 NM_000014.5:c.1275= NM_000014.5:c.1275C>T NM_000014.5:c.1275C>G NM_000014.5:c.1275C>A
A2M transcript NM_000014.4:c.1275= NM_000014.4:c.1275C>T NM_000014.4:c.1275C>G NM_000014.4:c.1275C>A
A2M transcript variant 3 NM_001347424.2:c.975= NM_001347424.2:c.975C>T NM_001347424.2:c.975C>G NM_001347424.2:c.975C>A
A2M transcript variant 3 NM_001347424.1:c.975= NM_001347424.1:c.975C>T NM_001347424.1:c.975C>G NM_001347424.1:c.975C>A
A2M transcript variant 2 NM_001347423.2:c.1275= NM_001347423.2:c.1275C>T NM_001347423.2:c.1275C>G NM_001347423.2:c.1275C>A
A2M transcript variant 2 NM_001347423.1:c.1275= NM_001347423.1:c.1275C>T NM_001347423.1:c.1275C>G NM_001347423.1:c.1275C>A
A2M transcript variant 4 NM_001347425.2:c.825= NM_001347425.2:c.825C>T NM_001347425.2:c.825C>G NM_001347425.2:c.825C>A
A2M transcript variant 4 NM_001347425.1:c.825= NM_001347425.1:c.825C>T NM_001347425.1:c.825C>G NM_001347425.1:c.825C>A
A2M transcript variant X1 XM_006719056.4:c.1275= XM_006719056.4:c.1275C>T XM_006719056.4:c.1275C>G XM_006719056.4:c.1275C>A
A2M transcript variant X1 XM_006719056.3:c.1275= XM_006719056.3:c.1275C>T XM_006719056.3:c.1275C>G XM_006719056.3:c.1275C>A
A2M transcript variant X1 XM_006719056.2:c.1275= XM_006719056.2:c.1275C>T XM_006719056.2:c.1275C>G XM_006719056.2:c.1275C>A
A2M transcript variant X1 XM_006719056.1:c.1275= XM_006719056.1:c.1275C>T XM_006719056.1:c.1275C>G XM_006719056.1:c.1275C>A
alpha-2-macroglobulin isoform a precursor NP_000005.3:p.Tyr425= NP_000005.3:p.Tyr425= NP_000005.3:p.Tyr425Ter NP_000005.3:p.Tyr425Ter
alpha-2-macroglobulin isoform b NP_001334353.2:p.Tyr325= NP_001334353.2:p.Tyr325= NP_001334353.2:p.Tyr325Ter NP_001334353.2:p.Tyr325Ter
alpha-2-macroglobulin isoform a precursor NP_001334352.2:p.Tyr425= NP_001334352.2:p.Tyr425= NP_001334352.2:p.Tyr425Ter NP_001334352.2:p.Tyr425Ter
alpha-2-macroglobulin isoform c NP_001334354.2:p.Tyr275= NP_001334354.2:p.Tyr275= NP_001334354.2:p.Tyr275Ter NP_001334354.2:p.Tyr275Ter
alpha-2-macroglobulin isoform X1 XP_006719119.1:p.Tyr425= XP_006719119.1:p.Tyr425= XP_006719119.1:p.Tyr425Ter XP_006719119.1:p.Tyr425Ter
alpha-2-macroglobulin isoform a precursor NP_000005.2:p.Tyr425= NP_000005.2:p.Tyr425= NP_000005.2:p.Tyr425Ter NP_000005.2:p.Tyr425Ter
KLRG1 transcript variant X2 XM_017018684.2:c.*34-33420= XM_017018684.2:c.*34-33420G>A XM_017018684.2:c.*34-33420G>C XM_017018684.2:c.*34-33420G>T
KLRG1 transcript variant X3 XM_017018685.2:c.*33+43500= XM_017018685.2:c.*33+43500G>A XM_017018685.2:c.*33+43500G>C XM_017018685.2:c.*33+43500G>T
KLRG1 transcript variant X4 XM_047428074.1:c.*33+43500= XM_047428074.1:c.*33+43500G>A XM_047428074.1:c.*33+43500G>C XM_047428074.1:c.*33+43500G>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#.

10 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 CLINSEQ_SNP ss491660086 May 04, 2012 (137)
2 EVA_UK10K_ALSPAC ss1627985451 Apr 01, 2015 (144)
3 EVA_UK10K_TWINSUK ss1670979484 Apr 01, 2015 (144)
4 EVA_EXAC ss1690784770 Apr 01, 2015 (144)
5 HUMAN_LONGEVITY ss2187675494 Dec 20, 2016 (150)
6 GNOMAD ss2739623122 Nov 08, 2017 (151)
7 GNOMAD ss2748810211 Nov 08, 2017 (151)
8 GNOMAD ss2907177104 Nov 08, 2017 (151)
9 EVA ss3986558629 Apr 26, 2021 (155)
10 TOPMED ss4908189535 Apr 26, 2021 (155)
11 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 9254262 Oct 12, 2018 (152)
12 ExAC NC_000012.11 - 9254262 Oct 12, 2018 (152)
13 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398846623 (NC_000012.12:9101665:G:A 44/140250)
Row 398846624 (NC_000012.12:9101665:G:C 1/140250)
Row 398846625 (NC_000012.12:9101665:G:T 0/140250)

- Apr 26, 2021 (155)
14 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398846623 (NC_000012.12:9101665:G:A 44/140250)
Row 398846624 (NC_000012.12:9101665:G:C 1/140250)
Row 398846625 (NC_000012.12:9101665:G:T 0/140250)

- Apr 26, 2021 (155)
15 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398846623 (NC_000012.12:9101665:G:A 44/140250)
Row 398846624 (NC_000012.12:9101665:G:C 1/140250)
Row 398846625 (NC_000012.12:9101665:G:T 0/140250)

- Apr 26, 2021 (155)
16 gnomAD - Exomes NC_000012.11 - 9254262 Jul 13, 2019 (153)
17 TopMed NC_000012.12 - 9101666 Apr 26, 2021 (155)
18 UK 10K study - Twins NC_000012.11 - 9254262 Oct 12, 2018 (152)
19 ALFA NC_000012.12 - 9101666 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
ss491660086 NC_000012.10:9145528:G:A NC_000012.12:9101665:G:A (self)
31406696, 1071718, 8849134, 31406696, ss1627985451, ss1670979484, ss1690784770, ss2739623122, ss2748810211, ss2907177104, ss3986558629 NC_000012.11:9254261:G:A NC_000012.12:9101665:G:A (self)
123735192, 1394757594, ss2187675494, ss4908189535 NC_000012.12:9101665:G:A NC_000012.12:9101665:G:A (self)
1394757594 NC_000012.12:9101665:G:C NC_000012.12:9101665:G:C (self)
1394757594 NC_000012.12:9101665:G:T NC_000012.12:9101665:G: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 rs201110464

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