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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.

rs34472107

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:177325 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000007 (1/140256, GnomAD)
A=0.00000 (0/14050, ALFA)
G=0.00000 (0/14050, ALFA) (+ 2 more)
T=0.00000 (0/14050, ALFA)
G=0.0003 (1/2908, KOREAN)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HBA1 : Missense Variant
Publications
2 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 14050 C=1.00000 A=0.00000, G=0.00000, T=0.00000
European Sub 9690 C=1.0000 A=0.0000, G=0.0000, T=0.0000
African Sub 2898 C=1.0000 A=0.0000, G=0.0000, T=0.0000
African Others Sub 114 C=1.000 A=0.000, G=0.000, T=0.000
African American Sub 2784 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Asian Sub 112 C=1.000 A=0.000, G=0.000, T=0.000
East Asian Sub 86 C=1.00 A=0.00, G=0.00, T=0.00
Other Asian Sub 26 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, G=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 A=0.000, G=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, G=0.00, T=0.00
Other Sub 496 C=1.000 A=0.000, G=0.000, T=0.000


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
gnomAD - Genomes Global Study-wide 140256 C=0.999993 A=0.000007
gnomAD - Genomes European Sub 75948 C=1.00000 A=0.00000
gnomAD - Genomes African Sub 42050 C=1.00000 A=0.00000
gnomAD - Genomes American Sub 13656 C=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3126 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9995 A=0.0005
Allele Frequency Aggregator Total Global 14050 C=1.00000 A=0.00000, G=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, G=0.00, T=0.00
KOREAN population from KRGDB KOREAN Study-wide 2908 C=0.9997 G=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 16 NC_000016.10:g.177325C>A
GRCh38.p14 chr 16 NC_000016.10:g.177325C>G
GRCh38.p14 chr 16 NC_000016.10:g.177325C>T
GRCh37.p13 chr 16 NC_000016.9:g.227324C>A
GRCh37.p13 chr 16 NC_000016.9:g.227324C>G
GRCh37.p13 chr 16 NC_000016.9:g.227324C>T
HBA region RefSeqGene NG_000006.1:g.38188C>A
HBA region RefSeqGene NG_000006.1:g.38188C>G
HBA region RefSeqGene NG_000006.1:g.38188C>T
HBA1 RefSeqGene (LRG_1225) NG_059186.1:g.5675C>A
HBA1 RefSeqGene (LRG_1225) NG_059186.1:g.5675C>G
HBA1 RefSeqGene (LRG_1225) NG_059186.1:g.5675C>T
LOC106804613 genomic region NG_046166.1:g.2808C>A
LOC106804613 genomic region NG_046166.1:g.2808C>G
LOC106804613 genomic region NG_046166.1:g.2808C>T
Gene: HBA1, hemoglobin subunit alpha 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HBA1 transcript NM_000558.5:c.343C>A P [CCC] > T [ACC] Coding Sequence Variant
hemoglobin subunit alpha NP_000549.1:p.Pro115Thr P (Pro) > T (Thr) Missense Variant
HBA1 transcript NM_000558.5:c.343C>G P [CCC] > A [GCC] Coding Sequence Variant
hemoglobin subunit alpha NP_000549.1:p.Pro115Ala P (Pro) > A (Ala) Missense Variant
HBA1 transcript NM_000558.5:c.343C>T P [CCC] > S [TCC] Coding Sequence Variant
hemoglobin subunit alpha NP_000549.1:p.Pro115Ser P (Pro) > S (Ser) 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: T (allele ID: 30896 )
ClinVar Accession Disease Names Clinical Significance
RCV000017203.3 HEMOGLOBIN MELUSINE Other
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 C= A G T
GRCh38.p14 chr 16 NC_000016.10:g.177325= NC_000016.10:g.177325C>A NC_000016.10:g.177325C>G NC_000016.10:g.177325C>T
GRCh37.p13 chr 16 NC_000016.9:g.227324= NC_000016.9:g.227324C>A NC_000016.9:g.227324C>G NC_000016.9:g.227324C>T
HBA region RefSeqGene NG_000006.1:g.38188= NG_000006.1:g.38188C>A NG_000006.1:g.38188C>G NG_000006.1:g.38188C>T
HBA1 RefSeqGene (LRG_1225) NG_059186.1:g.5675= NG_059186.1:g.5675C>A NG_059186.1:g.5675C>G NG_059186.1:g.5675C>T
HBA1 transcript NM_000558.5:c.343= NM_000558.5:c.343C>A NM_000558.5:c.343C>G NM_000558.5:c.343C>T
HBA1 transcript NM_000558.4:c.343= NM_000558.4:c.343C>A NM_000558.4:c.343C>G NM_000558.4:c.343C>T
HBA1 transcript NM_000558.3:c.343= NM_000558.3:c.343C>A NM_000558.3:c.343C>G NM_000558.3:c.343C>T
LOC106804613 genomic region NG_046166.1:g.2808= NG_046166.1:g.2808C>A NG_046166.1:g.2808C>G NG_046166.1:g.2808C>T
hemoglobin subunit alpha NP_000549.1:p.Pro115= NP_000549.1:p.Pro115Thr NP_000549.1:p.Pro115Ala NP_000549.1:p.Pro115Ser
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#.

8 SubSNP, 5 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 MILLER_NIDDK ss49850388 Mar 13, 2006 (126)
2 HBVAR ss79088803 Oct 11, 2012 (137)
3 OMIM-CURATED-RECORDS ss275514739 Nov 22, 2010 (133)
4 HBVAR ss539210587 Oct 11, 2012 (137)
5 KRGDB ss3932977333 Apr 27, 2020 (154)
6 GNOMAD ss4295204725 Apr 26, 2021 (155)
7 TOPMED ss5004274915 Apr 26, 2021 (155)
8 TOPMED ss5004274916 Apr 26, 2021 (155)
9 gnomAD - Genomes NC_000016.10 - 177325 Apr 26, 2021 (155)
10 KOREAN population from KRGDB NC_000016.9 - 227324 Apr 27, 2020 (154)
11 TopMed

Submission ignored due to conflicting rows:
Row 219820576 (NC_000016.10:177324:C:A 1/264690)
Row 219820577 (NC_000016.10:177324:C:G 1/264690)

- Apr 26, 2021 (155)
12 TopMed

Submission ignored due to conflicting rows:
Row 219820576 (NC_000016.10:177324:C:A 1/264690)
Row 219820577 (NC_000016.10:177324:C:G 1/264690)

- Apr 26, 2021 (155)
13 ALFA NC_000016.10 - 177325 Apr 26, 2021 (155)
14 ClinVar RCV000017203.3 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).

Associated ID History Updated (Build)
rs63751114 Mar 28, 2012 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
479848297, 13116177869, ss4295204725, ss5004274915 NC_000016.10:177324:C:A NC_000016.10:177324:C:A (self)
40154727, ss3932977333 NC_000016.9:227323:C:G NC_000016.10:177324:C:G (self)
13116177869, ss539210587, ss5004274916 NC_000016.10:177324:C:G NC_000016.10:177324:C:G (self)
RCV000017203.3, 13116177869, ss79088803, ss275514739 NC_000016.10:177324:C:T NC_000016.10:177324:C:T (self)
ss49850388 NT_010393.16:167323:C:T NC_000016.10:177324:C:T (self)
Help

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

2 citations for rs34472107
PMID Title Author Year Journal
8294199 Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. Wajcman H et al. 1993 Hemoglobin
8294200 Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity. Wajcman H et al. 1993 Hemoglobin
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