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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.

rs199422211

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:94381067 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000015 (4/264690, TOPMED)
A=0.000016 (4/251178, GnomAD_exome)
A=0.000007 (1/140156, GnomAD) (+ 3 more)
A=0.000017 (2/121070, ExAC)
A=0.00008 (3/39898, ALFA)
A=0.0002 (1/4480, Estonian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SERPINA1 : Stop Gained
Publications
4 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 39898 T=0.99992 A=0.00008
European Sub 31048 T=0.99990 A=0.00010
African Sub 2918 T=1.0000 A=0.0000
African Others Sub 114 T=1.000 A=0.000
African American Sub 2804 T=1.0000 A=0.0000
Asian Sub 112 T=1.000 A=0.000
East Asian Sub 86 T=1.00 A=0.00
Other Asian Sub 26 T=1.00 A=0.00
Latin American 1 Sub 500 T=1.000 A=0.000
Latin American 2 Sub 628 T=1.000 A=0.000
South Asian Sub 98 T=1.00 A=0.00
Other Sub 4594 T=1.0000 A=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 T=0.999985 A=0.000015
gnomAD - Exomes Global Study-wide 251178 T=0.999984 A=0.000016
gnomAD - Exomes European Sub 135174 T=0.999978 A=0.000022
gnomAD - Exomes Asian Sub 48994 T=1.00000 A=0.00000
gnomAD - Exomes American Sub 34578 T=1.00000 A=0.00000
gnomAD - Exomes African Sub 16234 T=0.99994 A=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10068 T=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6130 T=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140156 T=0.999993 A=0.000007
gnomAD - Genomes European Sub 75926 T=0.99999 A=0.00001
gnomAD - Genomes African Sub 41968 T=1.00000 A=0.00000
gnomAD - Genomes American Sub 13658 T=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 T=1.0000 A=0.0000
ExAC Global Study-wide 121070 T=0.999983 A=0.000017
ExAC Europe Sub 73196 T=0.99997 A=0.00003
ExAC Asian Sub 25094 T=1.00000 A=0.00000
ExAC American Sub 11516 T=1.00000 A=0.00000
ExAC African Sub 10366 T=1.00000 A=0.00000
ExAC Other Sub 898 T=1.000 A=0.000
Allele Frequency Aggregator Total Global 39898 T=0.99992 A=0.00008
Allele Frequency Aggregator European Sub 31048 T=0.99990 A=0.00010
Allele Frequency Aggregator Other Sub 4594 T=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2918 T=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 T=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 T=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 A=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9998 A=0.0002
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 14 NC_000014.9:g.94381067T>A
GRCh37.p13 chr 14 NC_000014.8:g.94847404T>A
SERPINA1 RefSeqGene (LRG_575) NG_008290.1:g.14626A>T
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.1497639T>A
Gene: SERPINA1, serpin family A member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SERPINA1 transcript variant 7 NM_001127703.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121175.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 9 NM_001127705.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121177.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 3 NM_001002235.3:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001002235.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 2 NM_001002236.3:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001002236.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 10 NM_001127706.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121178.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 11 NM_001127707.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121179.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 8 NM_001127704.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121176.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 1 NM_000295.5:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_000286.3:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 5 NM_001127701.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121173.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 6 NM_001127702.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121174.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant 4 NM_001127700.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin precursor NP_001121172.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant X1 XM_047431478.1:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin isoform X1 XP_047287434.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant X2 XM_047431479.1:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin isoform X1 XP_047287435.1:p.Lys241Ter K (Lys) > * (Ter) Stop Gained
SERPINA1 transcript variant X3 XM_017021370.2:c.721A>T K [AAG] > * [TAG] Coding Sequence Variant
alpha-1-antitrypsin isoform X1 XP_016876859.1:p.Lys241Ter K (Lys) > * (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.

Allele: A (allele ID: 33016 )
ClinVar Accession Disease Names Clinical Significance
RCV000019581.3 PI NULL(BELLINGHAM) Other
RCV000019582.3 PI Q0(BELLINGHAM) Other
RCV000169162.5 Alpha-1-antitrypsin deficiency Pathogenic-Likely-Pathogenic
RCV001528835.3 not provided Pathogenic
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= A
GRCh38.p14 chr 14 NC_000014.9:g.94381067= NC_000014.9:g.94381067T>A
GRCh37.p13 chr 14 NC_000014.8:g.94847404= NC_000014.8:g.94847404T>A
SERPINA1 RefSeqGene (LRG_575) NG_008290.1:g.14626= NG_008290.1:g.14626A>T
SERPINA1 transcript variant 1 NM_000295.5:c.721= NM_000295.5:c.721A>T
SERPINA1 transcript variant 1 NM_000295.4:c.721= NM_000295.4:c.721A>T
SERPINA1 transcript variant 2 NM_001002236.3:c.721= NM_001002236.3:c.721A>T
SERPINA1 transcript variant 2 NM_001002236.2:c.721= NM_001002236.2:c.721A>T
SERPINA1 transcript variant 3 NM_001002235.3:c.721= NM_001002235.3:c.721A>T
SERPINA1 transcript variant 3 NM_001002235.2:c.721= NM_001002235.2:c.721A>T
SERPINA1 transcript variant 5 NM_001127701.2:c.721= NM_001127701.2:c.721A>T
SERPINA1 transcript variant 5 NM_001127701.1:c.721= NM_001127701.1:c.721A>T
SERPINA1 transcript variant 9 NM_001127705.2:c.721= NM_001127705.2:c.721A>T
SERPINA1 transcript variant 9 NM_001127705.1:c.721= NM_001127705.1:c.721A>T
SERPINA1 transcript variant 7 NM_001127703.2:c.721= NM_001127703.2:c.721A>T
SERPINA1 transcript variant 7 NM_001127703.1:c.721= NM_001127703.1:c.721A>T
SERPINA1 transcript variant 8 NM_001127704.2:c.721= NM_001127704.2:c.721A>T
SERPINA1 transcript variant 8 NM_001127704.1:c.721= NM_001127704.1:c.721A>T
SERPINA1 transcript variant 6 NM_001127702.2:c.721= NM_001127702.2:c.721A>T
SERPINA1 transcript variant 6 NM_001127702.1:c.721= NM_001127702.1:c.721A>T
SERPINA1 transcript variant 10 NM_001127706.2:c.721= NM_001127706.2:c.721A>T
SERPINA1 transcript variant 10 NM_001127706.1:c.721= NM_001127706.1:c.721A>T
SERPINA1 transcript variant 11 NM_001127707.2:c.721= NM_001127707.2:c.721A>T
SERPINA1 transcript variant 11 NM_001127707.1:c.721= NM_001127707.1:c.721A>T
SERPINA1 transcript variant 4 NM_001127700.2:c.721= NM_001127700.2:c.721A>T
SERPINA1 transcript variant 4 NM_001127700.1:c.721= NM_001127700.1:c.721A>T
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.1497639= NT_187601.1:g.1497639T>A
SERPINA1 transcript variant X3 XM_017021370.2:c.721= XM_017021370.2:c.721A>T
SERPINA1 transcript variant X1 XM_017021370.1:c.721= XM_017021370.1:c.721A>T
SERPINA1 transcript variant X2 XM_047431479.1:c.721= XM_047431479.1:c.721A>T
SERPINA1 transcript variant X1 XM_047431478.1:c.721= XM_047431478.1:c.721A>T
alpha-1-antitrypsin precursor NP_000286.3:p.Lys241= NP_000286.3:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001002236.1:p.Lys241= NP_001002236.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001002235.1:p.Lys241= NP_001002235.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121173.1:p.Lys241= NP_001121173.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121177.1:p.Lys241= NP_001121177.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121175.1:p.Lys241= NP_001121175.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121176.1:p.Lys241= NP_001121176.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121174.1:p.Lys241= NP_001121174.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121178.1:p.Lys241= NP_001121178.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121179.1:p.Lys241= NP_001121179.1:p.Lys241Ter
alpha-1-antitrypsin precursor NP_001121172.1:p.Lys241= NP_001121172.1:p.Lys241Ter
alpha-1-antitrypsin isoform X1 XP_016876859.1:p.Lys241= XP_016876859.1:p.Lys241Ter
alpha-1-antitrypsin isoform X1 XP_047287435.1:p.Lys241= XP_047287435.1:p.Lys241Ter
alpha-1-antitrypsin isoform X1 XP_047287434.1:p.Lys241= XP_047287434.1:p.Lys241Ter
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, 6 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss475893684 Dec 13, 2011 (136)
2 NCBI-CURATED-RECORDS ss537713422 Jan 04, 2013 (137)
3 EVA_EXAC ss1691612080 Apr 01, 2015 (144)
4 GNOMAD ss2740918146 Nov 08, 2017 (151)
5 GNOMAD ss2749197691 Nov 08, 2017 (151)
6 GNOMAD ss2931100236 Nov 08, 2017 (151)
7 EGCUT_WGS ss3679957813 Jul 13, 2019 (153)
8 TOPMED ss4980984453 Apr 26, 2021 (155)
9 EVA ss5847731379 Oct 16, 2022 (156)
10 EVA ss5979450612 Oct 16, 2022 (156)
11 Genetic variation in the Estonian population NC_000014.8 - 94847404 Oct 12, 2018 (152)
12 ExAC NC_000014.8 - 94847404 Oct 12, 2018 (152)
13 gnomAD - Genomes NC_000014.9 - 94381067 Apr 26, 2021 (155)
14 gnomAD - Exomes NC_000014.8 - 94847404 Jul 13, 2019 (153)
15 TopMed NC_000014.9 - 94381067 Apr 26, 2021 (155)
16 ALFA NC_000014.9 - 94381067 Apr 26, 2021 (155)
17 ClinVar RCV000019581.3 Oct 16, 2022 (156)
18 ClinVar RCV000019582.3 Oct 16, 2022 (156)
19 ClinVar RCV000169162.5 Oct 16, 2022 (156)
20 ClinVar RCV001528835.3 Oct 16, 2022 (156)
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
25696061, 1968080, 10176351, ss1691612080, ss2740918146, ss2749197691, ss2931100236, ss3679957813, ss5847731379, ss5979450612 NC_000014.8:94847403:T:A NC_000014.9:94381066:T:A (self)
RCV000019581.3, RCV000019582.3, RCV000169162.5, RCV001528835.3, 459857606, 196530112, 11306408920, ss475893684, ss537713422, ss4980984453 NC_000014.9:94381066:T:A NC_000014.9:94381066:T:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

4 citations for rs199422211
PMID Title Author Year Journal
2642408 The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy. Crystal RG et al. 1989 Chest
3257351 Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Satoh K et al. 1988 American journal of human genetics
7980208 Absence of alpha-1-antitrypsin (Pi Null Bellingham) and the early onset of emphysema. Cook L et al. 1994 Australian and New Zealand journal of medicine
18353624 Alpha-1 antitrypsin Null mutations and severity of emphysema. Fregonese L et al. 2008 Respiratory medicine
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