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

Unable to retrieve tooltip data due to server error.

rs1469658223

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:103696763 (GRCh38.p14) Help

Unable to retrieve tooltip data due to server error.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00000 (0/11862, ALFA)
G=0.0013 (3/2244, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AMY1B : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome

Unable to retrieve tooltip data due to server error.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 11862 A=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 A=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 470 A=1.000 G=0.000 1.0 0.0 0.0 N/A


Help

Unable to retrieve tooltip data due to server error.

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 11862 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 7618 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2816 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 470 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 G=0.00
KOREAN population from KRGDB KOREAN Study-wide 2244 A=0.9987 G=0.0013
Help

Unable to retrieve tooltip data due to server error.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.103696763A>G
GRCh37.p13 chr 1 NC_000001.10:g.104239385A>G
Gene: AMY1B, amylase alpha 1B (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
AMY1B transcript variant 1 NM_001008218.2:c. N/A Upstream Transcript Variant
AMY1B transcript variant 2 NM_001386925.1:c. N/A Upstream Transcript Variant
Help

Unable to retrieve tooltip data due to server error.

Not Reported in ClinVar
Help

Unable to retrieve tooltip data due to server error.

Placement A= G
GRCh38.p14 chr 1 NC_000001.11:g.103696763= NC_000001.11:g.103696763A>G
GRCh37.p13 chr 1 NC_000001.10:g.104239385= NC_000001.10:g.104239385A>G
AMY1B transcript variant X2 XM_005270758.1:c.-46-1078= XM_005270758.1:c.-46-1078T>C
AMY1B transcript variant X3 XM_005270759.1:c.-46-1078= XM_005270759.1:c.-46-1078T>C
Help

Unable to retrieve tooltip data due to server error.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 KRGDB ss3894619901 Apr 25, 2020 (154)
2 KOREAN population from KRGDB NC_000001.10 - 104239385 Apr 25, 2020 (154)
3 ALFA NC_000001.11 - 103696763 Apr 25, 2021 (155)
Help

Unable to retrieve tooltip data due to server error.

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1797295, ss3894619901 NC_000001.10:104239384:A:G NC_000001.11:103696762:A:G (self)
5736456586 NC_000001.11:103696762:A:G NC_000001.11:103696762:A:G (self)
Help

Unable to retrieve tooltip data due to server error.

No publications for rs1469658223

Help
Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

Unable to retrieve tooltip data due to server error.

Software version is: 2.0.1.post820+afb47a3d