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dbSNP Short Genetic Variations

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.

rs33949930

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr11:5227017 (GRCh38.p12) 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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00000 (1/251128, GnomAD_exome)
G=0.00001 (1/125568, TOPMED)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HBB : Missense Variant
Publications
8 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.p12 chr 11 NC_000011.10:g.5227017A>C
GRCh38.p12 chr 11 NC_000011.10:g.5227017A>G
GRCh38.p12 chr 11 NC_000011.10:g.5227017A>T
GRCh37.p13 chr 11 NC_000011.9:g.5248247A>C
GRCh37.p13 chr 11 NC_000011.9:g.5248247A>G
GRCh37.p13 chr 11 NC_000011.9:g.5248247A>T
HBB region RefSeqGene NG_000007.3:g.70599T>G
HBB region RefSeqGene NG_000007.3:g.70599T>C
HBB region RefSeqGene NG_000007.3:g.70599T>A
HBB RefSeqGene NG_059281.1:g.5055T>G
HBB RefSeqGene NG_059281.1:g.5055T>C
HBB RefSeqGene NG_059281.1:g.5055T>A
LOC107133510 genomic region NG_046672.1:g.4952A>C
LOC107133510 genomic region NG_046672.1:g.4952A>G
LOC107133510 genomic region NG_046672.1:g.4952A>T
LOC106099062 genomic region NG_042296.1:g.548A>C
LOC106099062 genomic region NG_042296.1:g.548A>G
LOC106099062 genomic region NG_042296.1:g.548A>T
Gene: HBB, hemoglobin subunit beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HBB transcript NM_000518.5:c.5T>G V [GTG] > G [GGG] Coding Sequence Variant
hemoglobin subunit beta NP_000509.1:p.Val2Gly V (Val) > G (Gly) Missense Variant
HBB transcript NM_000518.5:c.5T>C V [GTG] > A [GCG] Coding Sequence Variant
hemoglobin subunit beta NP_000509.1:p.Val2Ala V (Val) > A (Ala) Missense Variant
HBB transcript NM_000518.5:c.5T>A V [GTG] > E [GAG] Coding Sequence Variant
hemoglobin subunit beta NP_000509.1:p.Val2Glu V (Val) > E (Glu) 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: C (allele ID: 30626 )
ClinVar Accession Disease Names Clinical Significance
RCV000016854.2 HEMOGLOBIN WATFORD Other
Allele: G (allele ID: 30362 )
ClinVar Accession Disease Names Clinical Significance
RCV000016563.5 HEMOGLOBIN RALEIGH Other
RCV000756238.1 not provided Uncertain-Significance
RCV000781459.1 not specified Uncertain-Significance
Allele: T (allele ID: 30198 )
ClinVar Accession Disease Names Clinical Significance
RCV000016327.4 HEMOGLOBIN DOHA Other
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 - Exomes Global Study-wide 251128 A=1.00000 G=0.00000
gnomAD - Exomes European Sub 135120 A=0.99999 G=0.00001
gnomAD - Exomes Asian Sub 48982 A=1.0000 G=0.0000
gnomAD - Exomes American Sub 34570 A=1.0000 G=0.0000
gnomAD - Exomes African Sub 16256 A=1.0000 G=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 10068 A=1.0000 G=0.0000
gnomAD - Exomes Other Sub 6132 A=1.000 G=0.000
TopMed Global Study-wide 125568 A=0.99999 G=0.00001
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= C G T Note
GRCh38.p12 chr 11 NC_000011.10:...

NC_000011.10:g.5227017=

NC_000011.10:...

NC_000011.10:g.5227017A>C

NC_000011.10:...

NC_000011.10:g.5227017A>G

NC_000011.10:...

NC_000011.10:g.5227017A>T

GRCh37.p13 chr 11 NC_000011.9:g...

NC_000011.9:g.5248247=

NC_000011.9:g...

NC_000011.9:g.5248247A>C

NC_000011.9:g...

NC_000011.9:g.5248247A>G

NC_000011.9:g...

NC_000011.9:g.5248247A>T

HBB region RefSeqGene NG_000007.3:g...

NG_000007.3:g.70599=

NG_000007.3:g...

NG_000007.3:g.70599T>G

NG_000007.3:g...

NG_000007.3:g.70599T>C

NG_000007.3:g...

NG_000007.3:g.70599T>A

HBB RefSeqGene NG_059281.1:g...

NG_059281.1:g.5055=

NG_059281.1:g...

NG_059281.1:g.5055T>G

NG_059281.1:g...

NG_059281.1:g.5055T>C

NG_059281.1:g...

NG_059281.1:g.5055T>A

HBB transcript NM_000518.5:c.5= NM_000518.5:c...

NM_000518.5:c.5T>G

NM_000518.5:c...

NM_000518.5:c.5T>C

NM_000518.5:c...

NM_000518.5:c.5T>A

HBB transcript NM_000518.4:c.5= NM_000518.4:c...

NM_000518.4:c.5T>G

NM_000518.4:c...

NM_000518.4:c.5T>C

NM_000518.4:c...

NM_000518.4:c.5T>A

LOC107133510 genomic region NG_046672.1:g...

NG_046672.1:g.4952=

NG_046672.1:g...

NG_046672.1:g.4952A>C

NG_046672.1:g...

NG_046672.1:g.4952A>G

NG_046672.1:g...

NG_046672.1:g.4952A>T

LOC106099062 genomic region NG_042296.1:g...

NG_042296.1:g.548=

NG_042296.1:g...

NG_042296.1:g.548A>C

NG_042296.1:g...

NG_042296.1:g.548A>G

NG_042296.1:g...

NG_042296.1:g.548A>T

hemoglobin subunit beta NP_000509.1:p...

NP_000509.1:p.Val2=

NP_000509.1:p...

NP_000509.1:p.Val2Gly

NP_000509.1:p...

NP_000509.1:p.Val2Ala

NP_000509.1:p...

NP_000509.1:p.Val2Glu

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, 2 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 MILLER_NIDDK ss49850517 Mar 13, 2006 (126)
2 MILLER_NIDDK ss49850518 Mar 13, 2006 (126)
3 MILLER_NIDDK ss49850519 Mar 13, 2006 (126)
4 HBVAR ss79088874 Oct 02, 2012 (137)
5 HBVAR ss79089417 Oct 02, 2012 (137)
6 HBVAR ss79089521 Oct 02, 2012 (137)
7 OMIM-CURATED-RECORDS ss263198953 Nov 08, 2010 (136)
8 OMIM-CURATED-RECORDS ss263199092 Nov 08, 2010 (136)
9 GNOMAD ss2738739471 Nov 08, 2017 (151)
10 TOPMED ss3135962138 Nov 08, 2017 (151)
11 gnomAD - Exomes NC_000011.9 - 5248247 Jul 13, 2019 (153)
12 TopMed NC_000011.10 - 5227017 Oct 12, 2018 (152)
13 ClinVar RCV000016327.4 Oct 12, 2018 (152)
14 ClinVar RCV000016563.5 Oct 12, 2018 (152)
15 ClinVar RCV000016854.2 Oct 12, 2018 (152)
16 ClinVar RCV000756238.1 Jul 13, 2019 (153)
17 ClinVar RCV000781459.1 Jul 13, 2019 (153)
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)
rs121909815 Oct 09, 2012 (136)
rs121909830 Jul 12, 2012 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV000016854.2, ss79089521, ss263199092 NC_000011.10:5227016:A:C NC_000011.10:5227016:A:C (self)
ss49850519 NT_009237.18:5188246:A:C NC_000011.10:5227016:A:C (self)
7946321, ss2738739471 NC_000011.9:5248246:A:G NC_000011.10:5227016:A:G (self)
RCV000016563.5, RCV000756238.1, RCV000781459.1, 56037341, ss79088874, ss263198953, ss3135962138 NC_000011.10:5227016:A:G NC_000011.10:5227016:A:G (self)
ss49850518 NT_009237.18:5188246:A:G NC_000011.10:5227016:A:G (self)
RCV000016327.4, ss79089417 NC_000011.10:5227016:A:T NC_000011.10:5227016:A:T (self)
ss49850517 NT_009237.18:5188246:A:T NC_000011.10:5227016:A:T (self)
Help

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

8 citations for rs33949930
PMID Title Author Year Journal
20942 Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization. Moo-Penn WF et al. 1977 Biochemistry
1634360 Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH. Moo-Penn WF et al. 1992 Hemoglobin
3840039 Hb Doha or alpha 2 beta 2[X-N-Met-1(NA1)Val----Glu]; a new beta-chain abnormal hemoglobin observed in a Qatari female. Kamel K et al. 1985 Biochimica et biophysica acta
5633723 Ethnological significance of hemoglobin alpha-2 beta-2 121 LYS. Kamel K et al. 1967 American journal of physical anthropology
8226093 Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis. Landin B et al. 1993 Hemoglobin
9625056 Hemoglobin Raleigh as the cause of a falsely increased hemoglobin A1C in an automated ion-exchange HPLC method. Chen D et al. 1998 Clinical chemistry
11186267 Hb Watford [beta1(NA1)Val-->Gly]: a new, clinically silent hemoglobin variant in linkage with a new neutral mutation. Fisher C et al. 2000 Hemoglobin
11482884 Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry. Wild BJ et al. 2001 Blood cells, molecules & diseases

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.post270+ab078da