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.

rs1480169570

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:44725333 (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=0.000011 (3/264690, TOPMED)
G=0.000013 (2/156568, GnomAD_exome)
G=0.000007 (1/140220, GnomAD) (+ 1 more)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARMH1 : Missense Variant
LOC105378690 : 2KB Upstream 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 A=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 A=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 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 98 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 A=1.000 G=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 A=0.999989 G=0.000011
gnomAD - Exomes Global Study-wide 156568 A=0.999987 G=0.000013
gnomAD - Exomes European Sub 77386 A=1.00000 G=0.00000
gnomAD - Exomes Asian Sub 33670 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 24688 A=0.99992 G=0.00008
gnomAD - Exomes Ashkenazi Jewish Sub 8498 A=1.0000 G=0.0000
gnomAD - Exomes African Sub 7924 A=1.0000 G=0.0000
gnomAD - Exomes Other Sub 4402 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140220 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75930 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42028 A=1.00000 G=0.00000
gnomAD - Genomes American Sub 13656 A=0.99993 G=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3128 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 14050 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 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 496 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 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=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 1 NC_000001.11:g.44725333A>G
GRCh37.p13 chr 1 NC_000001.10:g.45191005A>G
Gene: ARMH1, armadillo like helical domain containing 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARMH1 transcript NM_001145636.2:c.1253A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 NP_001139108.1:p.Tyr418Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X19 XM_017001144.2:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X23 XM_017001145.2:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X24 XM_017001146.3:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X25 XM_017001147.2:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X9 XM_047419353.1:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X14 XM_047419362.1:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X17 XM_047419367.1:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X18 XM_047419369.1:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X20 XM_047419370.1:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X21 XM_047419371.1:c. N/A Genic Downstream Transcript Variant
ARMH1 transcript variant X1 XM_011541341.2:c.1271A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X1 XP_011539643.1:p.Tyr424Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X2 XM_011541343.2:c.1271A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X1 XP_011539645.1:p.Tyr424Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X3 XM_047419337.1:c.1271A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X1 XP_047275293.1:p.Tyr424Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X4 XM_006710603.3:c.1271A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X1 XP_006710666.1:p.Tyr424Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X5 XM_011541340.2:c.1271A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X1 XP_011539642.1:p.Tyr424Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X6 XM_006710604.3:c.1271A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X1 XP_006710667.1:p.Tyr424Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X7 XM_011541345.2:c.1232A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X2 XP_011539647.1:p.Tyr411Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X8 XM_047419352.1:c.1226A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X3 XP_047275308.1:p.Tyr409Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X12 XM_047419358.1:c.1148A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X5 XP_047275314.1:p.Tyr383Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X13 XM_017001142.2:c.1106A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X6 XP_016856631.1:p.Tyr369Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X15 XM_011541349.3:c.1061A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X8 XP_011539651.1:p.Tyr354Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X16 XM_017001143.2:c.1028A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X9 XP_016856632.1:p.Tyr343Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X26 XM_047419380.1:c.572A>G Y [TAT] > C [TGT] Coding Sequence Variant
armadillo-like helical domain containing protein 1 isoform X18 XP_047275336.1:p.Tyr191Cys Y (Tyr) > C (Cys) Missense Variant
ARMH1 transcript variant X10 XR_001737140.2:n.1539A>G N/A Non Coding Transcript Variant
ARMH1 transcript variant X11 XR_001737141.2:n.1521A>G N/A Non Coding Transcript Variant
ARMH1 transcript variant X22 XR_007059336.1:n.1227A>G N/A Non Coding Transcript Variant
Gene: LOC105378690, uncharacterized LOC105378690 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC105378690 transcript variant X1 XR_001738032.2:n. N/A Upstream Transcript Variant
LOC105378690 transcript variant X4 XR_007066059.1:n. N/A Upstream Transcript Variant
LOC105378690 transcript variant X2 XR_947286.4:n. N/A Upstream Transcript Variant
LOC105378690 transcript variant X3 XR_007066058.1:n. N/A N/A
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 1 NC_000001.11:g.44725333= NC_000001.11:g.44725333A>G
GRCh37.p13 chr 1 NC_000001.10:g.45191005= NC_000001.10:g.45191005A>G
ARMH1 transcript variant X4 XM_006710603.3:c.1271= XM_006710603.3:c.1271A>G
ARMH1 transcript variant X3 XM_006710603.2:c.1271= XM_006710603.2:c.1271A>G
C1orf228 transcript variant X10 XM_006710603.1:c.1271= XM_006710603.1:c.1271A>G
ARMH1 transcript variant X6 XM_006710604.3:c.1271= XM_006710604.3:c.1271A>G
ARMH1 transcript variant X5 XM_006710604.2:c.1271= XM_006710604.2:c.1271A>G
C1orf228 transcript variant X11 XM_006710604.1:c.1271= XM_006710604.1:c.1271A>G
ARMH1 transcript variant X15 XM_011541349.3:c.1061= XM_011541349.3:c.1061A>G
ARMH1 transcript variant X13 XM_011541349.2:c.1061= XM_011541349.2:c.1061A>G
C1orf228 transcript variant X14 XM_011541349.1:c.1061= XM_011541349.1:c.1061A>G
ARMH1 transcript variant X5 XM_011541340.2:c.1271= XM_011541340.2:c.1271A>G
ARMH1 transcript variant X1 XM_011541340.1:c.1271= XM_011541340.1:c.1271A>G
ARMH1 transcript variant X7 XM_011541345.2:c.1232= XM_011541345.2:c.1232A>G
ARMH1 transcript variant X6 XM_011541345.1:c.1232= XM_011541345.1:c.1232A>G
ARMH1 transcript variant X2 XM_011541343.2:c.1271= XM_011541343.2:c.1271A>G
ARMH1 transcript variant X4 XM_011541343.1:c.1271= XM_011541343.1:c.1271A>G
ARMH1 transcript variant X10 XR_001737140.2:n.1539= XR_001737140.2:n.1539A>G
ARMH1 transcript variant X9 XR_001737140.1:n.1547= XR_001737140.1:n.1547A>G
ARMH1 transcript variant X11 XR_001737141.2:n.1521= XR_001737141.2:n.1521A>G
ARMH1 transcript variant X10 XR_001737141.1:n.1529= XR_001737141.1:n.1529A>G
ARMH1 transcript variant X1 XM_011541341.2:c.1271= XM_011541341.2:c.1271A>G
ARMH1 transcript variant X2 XM_011541341.1:c.1271= XM_011541341.1:c.1271A>G
ARMH1 transcript NM_001145636.2:c.1253= NM_001145636.2:c.1253A>G
ARMH1 transcript NM_001145636.1:c.1253= NM_001145636.1:c.1253A>G
ARMH1 transcript variant X13 XM_017001142.2:c.1106= XM_017001142.2:c.1106A>G
ARMH1 transcript variant X11 XM_017001142.1:c.1106= XM_017001142.1:c.1106A>G
ARMH1 transcript variant X16 XM_017001143.2:c.1028= XM_017001143.2:c.1028A>G
ARMH1 transcript variant X15 XM_017001143.1:c.1028= XM_017001143.1:c.1028A>G
MGC33556 transcript NM_001004307.1:c.*759= NM_001004307.1:c.*759A>G
ARMH1 transcript variant X3 XM_047419337.1:c.1271= XM_047419337.1:c.1271A>G
ARMH1 transcript variant X8 XM_047419352.1:c.1226= XM_047419352.1:c.1226A>G
ARMH1 transcript variant X12 XM_047419358.1:c.1148= XM_047419358.1:c.1148A>G
ARMH1 transcript variant X22 XR_007059336.1:n.1227= XR_007059336.1:n.1227A>G
ARMH1 transcript variant X26 XM_047419380.1:c.572= XM_047419380.1:c.572A>G
armadillo-like helical domain containing protein 1 isoform X1 XP_006710666.1:p.Tyr424= XP_006710666.1:p.Tyr424Cys
armadillo-like helical domain containing protein 1 isoform X1 XP_006710667.1:p.Tyr424= XP_006710667.1:p.Tyr424Cys
armadillo-like helical domain containing protein 1 isoform X8 XP_011539651.1:p.Tyr354= XP_011539651.1:p.Tyr354Cys
armadillo-like helical domain containing protein 1 isoform X1 XP_011539642.1:p.Tyr424= XP_011539642.1:p.Tyr424Cys
armadillo-like helical domain containing protein 1 isoform X2 XP_011539647.1:p.Tyr411= XP_011539647.1:p.Tyr411Cys
armadillo-like helical domain containing protein 1 isoform X1 XP_011539645.1:p.Tyr424= XP_011539645.1:p.Tyr424Cys
armadillo-like helical domain containing protein 1 isoform X1 XP_011539643.1:p.Tyr424= XP_011539643.1:p.Tyr424Cys
armadillo-like helical domain containing protein 1 NP_001139108.1:p.Tyr418= NP_001139108.1:p.Tyr418Cys
armadillo-like helical domain containing protein 1 isoform X6 XP_016856631.1:p.Tyr369= XP_016856631.1:p.Tyr369Cys
armadillo-like helical domain containing protein 1 isoform X9 XP_016856632.1:p.Tyr343= XP_016856632.1:p.Tyr343Cys
armadillo-like helical domain containing protein 1 isoform X1 XP_047275293.1:p.Tyr424= XP_047275293.1:p.Tyr424Cys
armadillo-like helical domain containing protein 1 isoform X3 XP_047275308.1:p.Tyr409= XP_047275308.1:p.Tyr409Cys
armadillo-like helical domain containing protein 1 isoform X5 XP_047275314.1:p.Tyr383= XP_047275314.1:p.Tyr383Cys
armadillo-like helical domain containing protein 1 isoform X18 XP_047275336.1:p.Tyr191= XP_047275336.1:p.Tyr191Cys
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 ss2731449332 Nov 08, 2017 (151)
2 GNOMAD ss2746317215 Nov 08, 2017 (151)
3 GNOMAD ss2754363312 Nov 08, 2017 (151)
4 TOPMED ss4447284936 Apr 25, 2021 (155)
5 gnomAD - Genomes NC_000001.11 - 44725333 Apr 25, 2021 (155)
6 gnomAD - Exomes NC_000001.10 - 45191005 Jul 12, 2019 (153)
7 TopMed NC_000001.11 - 44725333 Apr 25, 2021 (155)
8 ALFA NC_000001.11 - 44725333 Apr 25, 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
466072, ss2731449332, ss2746317215, ss2754363312 NC_000001.10:45191004:A:G NC_000001.11:44725332:A:G (self)
9376139, 10891271, 980235174, ss4447284936 NC_000001.11:44725332:A:G NC_000001.11:44725332: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 rs1480169570

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