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dbSNP Short Genetic Variations

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.

rs201280462

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr20:32434610 (GRCh38.p13) 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=0.000756 (200/264690, TOPMED)
G=0.000148 (36/243894, GnomAD_exome)
G=0.000084 (15/178732, ALFA) (+ 5 more)
G=0.000685 (96/140126, GnomAD)
G=0.000178 (19/106558, ExAC)
G=0.00116 (91/78698, PAGE_STUDY)
G=0.00039 (5/12786, GO-ESP)
G=0.0008 (4/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ASXL1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 20 NC_000020.11:g.32434610A>G
GRCh37.p13 chr 20 NC_000020.10:g.31022413A>G
ASXL1 RefSeqGene (LRG_630) NG_027868.1:g.81267A>G
Gene: ASXL1, ASXL transcriptional regulator 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ASXL1 transcript variant 2 NM_001164603.1:c. N/A Genic Downstream Transcript Variant
ASXL1 transcript variant 3 NM_001363734.1:c.1715A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform 3 NP_001350663.1:p.His572Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant 1 NM_015338.6:c.1898A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform 1 NP_056153.2:p.His633Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X10 XM_006723733.1:c.1214A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X7 XP_006723796.1:p.His405Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X2 XM_006723727.3:c.1895A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X2 XP_006723790.1:p.His632Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X3 XM_006723728.3:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X3 XP_006723791.1:p.His623Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X4 XM_017027704.1:c.1814A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X4 XP_016883193.1:p.His605Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X5 XM_011528652.2:c.1814A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X4 XP_011526954.1:p.His605Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X6 XM_017027705.1:c.1814A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X4 XP_016883194.1:p.His605Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X8 XM_017027706.1:c.1745A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X5 XP_016883195.1:p.His582Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X1 XM_011528648.3:c.2159A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X1 XP_011526950.1:p.His720Arg H (His) > R (Arg) Missense Variant
ASXL1 transcript variant X7 XM_006723730.4:c.1814A>G H [CAT] > R [CGT] Coding Sequence Variant
polycomb group protein ASXL1 isoform X4 XP_006723793.1:p.His605Arg H (His) > 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.

Allele: G (allele ID: 757434 )
ClinVar Accession Disease Names Clinical Significance
RCV000918225.1 not provided Likely-Benign

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 178732 A=0.999916 G=0.000084
European Sub 157596 A=0.999994 G=0.000006
African Sub 4308 A=0.9977 G=0.0023
African Others Sub 168 A=1.000 G=0.000
African American Sub 4140 A=0.9976 G=0.0024
Asian Sub 3334 A=1.0000 G=0.0000
East Asian Sub 2684 A=1.0000 G=0.0000
Other Asian Sub 650 A=1.000 G=0.000
Latin American 1 Sub 796 A=0.997 G=0.003
Latin American 2 Sub 968 A=1.000 G=0.000
South Asian Sub 280 A=1.000 G=0.000
Other Sub 11450 A=0.99983 G=0.00017


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=0.999244 G=0.000756
gnomAD - Exomes Global Study-wide 243894 A=0.999852 G=0.000148
gnomAD - Exomes European Sub 130672 A=0.999992 G=0.000008
gnomAD - Exomes Asian Sub 48542 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34304 A=0.99988 G=0.00012
gnomAD - Exomes African Sub 14528 A=0.99794 G=0.00206
gnomAD - Exomes Ashkenazi Jewish Sub 9876 A=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5972 A=0.9998 G=0.0002
Allele Frequency Aggregator Total Global 178732 A=0.999916 G=0.000084
Allele Frequency Aggregator European Sub 157596 A=0.999994 G=0.000006
Allele Frequency Aggregator Other Sub 11450 A=0.99983 G=0.00017
Allele Frequency Aggregator African Sub 4308 A=0.9977 G=0.0023
Allele Frequency Aggregator Asian Sub 3334 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 796 A=0.997 G=0.003
Allele Frequency Aggregator South Asian Sub 280 A=1.000 G=0.000
gnomAD - Genomes Global Study-wide 140126 A=0.999315 G=0.000685
gnomAD - Genomes European Sub 75858 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42008 A=0.99800 G=0.00200
gnomAD - Genomes American Sub 13658 A=0.99949 G=0.00051
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3126 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 A=0.9977 G=0.0023
ExAC Global Study-wide 106558 A=0.999822 G=0.000178
ExAC Europe Sub 63734 A=0.99998 G=0.00002
ExAC Asian Sub 23440 A=1.00000 G=0.00000
ExAC American Sub 10578 A=0.99981 G=0.00019
ExAC African Sub 8008 A=0.9980 G=0.0020
ExAC Other Sub 798 A=1.000 G=0.000
The PAGE Study Global Study-wide 78698 A=0.99884 G=0.00116
The PAGE Study AfricanAmerican Sub 32514 A=0.99809 G=0.00191
The PAGE Study Mexican Sub 10808 A=0.99991 G=0.00009
The PAGE Study Asian Sub 8318 A=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 A=0.9976 G=0.0024
The PAGE Study NativeHawaiian Sub 4534 A=1.0000 G=0.0000
The PAGE Study Cuban Sub 4230 A=0.9998 G=0.0002
The PAGE Study Dominican Sub 3828 A=0.9990 G=0.0010
The PAGE Study CentralAmerican Sub 2450 A=0.9988 G=0.0012
The PAGE Study SouthAmerican Sub 1982 A=1.0000 G=0.0000
The PAGE Study NativeAmerican Sub 1260 A=0.9992 G=0.0008
The PAGE Study SouthAsian Sub 856 A=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 12786 A=0.99961 G=0.00039
GO Exome Sequencing Project European American Sub 8454 A=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4332 A=0.9991 G=0.0009
1000Genomes Global Study-wide 5008 A=0.9992 G=0.0008
1000Genomes African Sub 1322 A=0.9970 G=0.0030
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=1.000 G=0.000
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.p13 chr 20 NC_000020.11:g.32434610= NC_000020.11:g.32434610A>G
GRCh37.p13 chr 20 NC_000020.10:g.31022413= NC_000020.10:g.31022413A>G
ASXL1 RefSeqGene (LRG_630) NG_027868.1:g.81267= NG_027868.1:g.81267A>G
ASXL1 transcript variant 1 NM_015338.6:c.1898= NM_015338.6:c.1898A>G
ASXL1 transcript variant 1 NM_015338.5:c.1898= NM_015338.5:c.1898A>G
ASXL1 transcript variant 3 NM_001363734.1:c.1715= NM_001363734.1:c.1715A>G
ASXL1 transcript variant X7 XM_006723730.4:c.1814= XM_006723730.4:c.1814A>G
ASXL1 transcript variant X2 XM_006723727.3:c.1895= XM_006723727.3:c.1895A>G
ASXL1 transcript variant X1 XM_011528648.3:c.2159= XM_011528648.3:c.2159A>G
ASXL1 transcript variant X3 XM_006723728.3:c.1868= XM_006723728.3:c.1868A>G
ASXL1 transcript variant X5 XM_011528652.2:c.1814= XM_011528652.2:c.1814A>G
ASXL1 transcript variant X4 XM_017027704.1:c.1814= XM_017027704.1:c.1814A>G
ASXL1 transcript variant X8 XM_017027706.1:c.1745= XM_017027706.1:c.1745A>G
ASXL1 transcript variant X10 XM_006723733.1:c.1214= XM_006723733.1:c.1214A>G
ASXL1 transcript variant X6 XM_017027705.1:c.1814= XM_017027705.1:c.1814A>G
polycomb group protein ASXL1 isoform 1 NP_056153.2:p.His633= NP_056153.2:p.His633Arg
polycomb group protein ASXL1 isoform 3 NP_001350663.1:p.His572= NP_001350663.1:p.His572Arg
polycomb group protein ASXL1 isoform X4 XP_006723793.1:p.His605= XP_006723793.1:p.His605Arg
polycomb group protein ASXL1 isoform X2 XP_006723790.1:p.His632= XP_006723790.1:p.His632Arg
polycomb group protein ASXL1 isoform X1 XP_011526950.1:p.His720= XP_011526950.1:p.His720Arg
polycomb group protein ASXL1 isoform X3 XP_006723791.1:p.His623= XP_006723791.1:p.His623Arg
polycomb group protein ASXL1 isoform X4 XP_011526954.1:p.His605= XP_011526954.1:p.His605Arg
polycomb group protein ASXL1 isoform X4 XP_016883193.1:p.His605= XP_016883193.1:p.His605Arg
polycomb group protein ASXL1 isoform X5 XP_016883195.1:p.His582= XP_016883195.1:p.His582Arg
polycomb group protein ASXL1 isoform X7 XP_006723796.1:p.His405= XP_006723796.1:p.His405Arg
polycomb group protein ASXL1 isoform X4 XP_016883194.1:p.His605= XP_016883194.1:p.His605Arg
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#.

31 SubSNP, 8 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss489189587 May 04, 2012 (137)
2 EXOME_CHIP ss491559408 May 04, 2012 (137)
3 NHLBI-ESP ss713563356 Apr 25, 2013 (138)
4 ILLUMINA ss780753602 Aug 21, 2014 (142)
5 ILLUMINA ss783431846 Aug 21, 2014 (142)
6 1000GENOMES ss1364576326 Aug 21, 2014 (142)
7 EVA_EXAC ss1693947616 Apr 01, 2015 (144)
8 ILLUMINA ss1752382710 Sep 08, 2015 (146)
9 ILLUMINA ss1917945916 Feb 12, 2016 (147)
10 ILLUMINA ss1946550199 Feb 12, 2016 (147)
11 ILLUMINA ss1959910178 Feb 12, 2016 (147)
12 HUMAN_LONGEVITY ss2242340644 Dec 20, 2016 (150)
13 TOPMED ss2408868404 Dec 20, 2016 (150)
14 GNOMAD ss2744530817 Nov 08, 2017 (151)
15 GNOMAD ss2750359663 Nov 08, 2017 (151)
16 GNOMAD ss2966856106 Nov 08, 2017 (151)
17 ILLUMINA ss3022113700 Nov 08, 2017 (151)
18 TOPMED ss3359147200 Nov 08, 2017 (151)
19 ILLUMINA ss3628379461 Oct 12, 2018 (152)
20 ILLUMINA ss3634832809 Oct 12, 2018 (152)
21 ILLUMINA ss3640540107 Oct 12, 2018 (152)
22 ILLUMINA ss3644780586 Oct 12, 2018 (152)
23 ILLUMINA ss3652568667 Oct 12, 2018 (152)
24 ILLUMINA ss3725910475 Jul 13, 2019 (153)
25 ILLUMINA ss3744492408 Jul 13, 2019 (153)
26 ILLUMINA ss3745132706 Jul 13, 2019 (153)
27 PAGE_CC ss3772044118 Jul 13, 2019 (153)
28 ILLUMINA ss3772628942 Jul 13, 2019 (153)
29 EVA ss3825360499 Apr 27, 2020 (154)
30 EVA ss3986827353 Apr 26, 2021 (155)
31 TOPMED ss5086883966 Apr 26, 2021 (155)
32 1000Genomes NC_000020.10 - 31022413 Oct 12, 2018 (152)
33 ExAC NC_000020.10 - 31022413 Oct 12, 2018 (152)
34 gnomAD - Genomes NC_000020.11 - 32434610 Apr 26, 2021 (155)
35 gnomAD - Exomes NC_000020.10 - 31022413 Jul 13, 2019 (153)
36 GO Exome Sequencing Project NC_000020.10 - 31022413 Oct 12, 2018 (152)
37 The PAGE Study NC_000020.11 - 32434610 Jul 13, 2019 (153)
38 TopMed NC_000020.11 - 32434610 Apr 26, 2021 (155)
39 ALFA NC_000020.11 - 32434610 Apr 26, 2021 (155)
40 ClinVar RCV000918225.1 Apr 27, 2020 (154)
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
78032799, 5498914, 13850371, 1817401, ss489189587, ss491559408, ss713563356, ss780753602, ss783431846, ss1364576326, ss1693947616, ss1752382710, ss1917945916, ss1946550199, ss1959910178, ss2408868404, ss2744530817, ss2750359663, ss2966856106, ss3022113700, ss3628379461, ss3634832809, ss3640540107, ss3644780586, ss3652568667, ss3744492408, ss3745132706, ss3772628942, ss3825360499, ss3986827353 NC_000020.10:31022412:A:G NC_000020.11:32434609:A:G (self)
RCV000918225.1, 550413971, 1265587, 226039643, 361992911, 1604245192, ss2242340644, ss3359147200, ss3725910475, ss3772044118, ss5086883966 NC_000020.11:32434609:A:G NC_000020.11:32434609: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 rs201280462

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.post596+ae089ad