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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.

rs2293734

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr3:120647048 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00026 (33/125568, TOPMED)
T=0.0001 (1/12998, GO-ESP)
A=0.001 (4/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HGD : Synonymous Variant
Publications
1 citation
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 3 NC_000003.12:g.120647048C>A
GRCh38.p12 chr 3 NC_000003.12:g.120647048C>T
GRCh37.p13 chr 3 NC_000003.11:g.120365895C>A
GRCh37.p13 chr 3 NC_000003.11:g.120365895C>T
HGD RefSeqGene NG_011957.1:g.40434G>T
HGD RefSeqGene NG_011957.1:g.40434G>A
Gene: HGD, homogentisate 1,2-dioxygenase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HGD transcript NM_000187.4:c.474G>T P [CCG] > P [CCT] Coding Sequence Variant
homogentisate 1,2-dioxygenase NP_000178.2:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript NM_000187.4:c.474G>A P [CCG] > P [CCA] Coding Sequence Variant
homogentisate 1,2-dioxygenase NP_000178.2:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X1 XM_005247412.2:c.474G>T P [CCG] > P [CCT] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X1 XP_005247469.1:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X1 XM_005247412.2:c.474G>A P [CCG] > P [CCA] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X1 XP_005247469.1:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X2 XM_005247413.2:c.474G>T P [CCG] > P [CCT] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X2 XP_005247470.1:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X2 XM_005247413.2:c.474G>A P [CCG] > P [CCA] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X2 XP_005247470.1:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X3 XM_017006277.2:c.51G>T P [CCG] > P [CCT] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X3 XP_016861766.1:p.Pro17= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X3 XM_017006277.2:c.51G>A P [CCG] > P [CCA] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X3 XP_016861766.1:p.Pro17= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X4 XM_011512746.2:c.474G>T P [CCG] > P [CCT] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X4 XP_011511048.1:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X4 XM_011512746.2:c.474G>A P [CCG] > P [CCA] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X4 XP_011511048.1:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X5 XM_005247414.5:c.474G>T P [CCG] > P [CCT] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X5 XP_005247471.1:p.Pro158= P (Pro) > P (Pro) Synonymous Variant
HGD transcript variant X5 XM_005247414.5:c.474G>A P [CCG] > P [CCA] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X5 XP_005247471.1:p.Pro158= P (Pro) > P (Pro) Synonymous 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: A (allele ID: 291941 )
ClinVar Accession Disease Names Clinical Significance
RCV000289762.1 Alkaptonuria Uncertain-Significance
Allele: T (allele ID: 292093 )
ClinVar Accession Disease Names Clinical Significance
RCV000344698.1 Alkaptonuria Uncertain-Significance
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 125568 C=0.99972 T=0.00002, A=0.00026
GO Exome Sequencing Project Global Study-wide 12998 C=0.9999 T=0.0001
GO Exome Sequencing Project European American Sub 8592 C=1.000 T=0.000
GO Exome Sequencing Project African American Sub 4406 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.999 A=0.001
1000Genomes African Sub 1322 C=1.000 A=0.000
1000Genomes East Asian Sub 1008 C=0.996 A=0.004
1000Genomes Europe Sub 1006 C=1.000 A=0.000
1000Genomes South Asian Sub 978 C=1.00 A=0.00
1000Genomes American Sub 694 C=1.00 A=0.00
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 T Note
GRCh38.p12 chr 3 NC_000003.12:g.12...

NC_000003.12:g.120647048=

NC_000003.12:g.12...

NC_000003.12:g.120647048C>A

NC_000003.12:g.12...

NC_000003.12:g.120647048C>T

GRCh37.p13 chr 3 NC_000003.11:g.12...

NC_000003.11:g.120365895=

NC_000003.11:g.12...

NC_000003.11:g.120365895C>A

NC_000003.11:g.12...

NC_000003.11:g.120365895C>T

HGD RefSeqGene NG_011957.1:g.40434= NG_011957.1:g.404...

NG_011957.1:g.40434G>T

NG_011957.1:g.404...

NG_011957.1:g.40434G>A

HGD transcript NM_000187.4:c.474= NM_000187.4:c.474G>T NM_000187.4:c.474G>A
HGD transcript NM_000187.3:c.474= NM_000187.3:c.474G>T NM_000187.3:c.474G>A
HGD transcript variant X5 XM_005247414.5:c....

XM_005247414.5:c.474=

XM_005247414.5:c....

XM_005247414.5:c.474G>T

XM_005247414.5:c....

XM_005247414.5:c.474G>A

HGD transcript variant X3 XM_005247414.1:c....

XM_005247414.1:c.474=

XM_005247414.1:c....

XM_005247414.1:c.474G>T

XM_005247414.1:c....

XM_005247414.1:c.474G>A

HGD transcript variant X3 XM_017006277.2:c.51= XM_017006277.2:c....

XM_017006277.2:c.51G>T

XM_017006277.2:c....

XM_017006277.2:c.51G>A

HGD transcript variant X1 XM_005247412.2:c....

XM_005247412.2:c.474=

XM_005247412.2:c....

XM_005247412.2:c.474G>T

XM_005247412.2:c....

XM_005247412.2:c.474G>A

HGD transcript variant X1 XM_005247412.1:c....

XM_005247412.1:c.474=

XM_005247412.1:c....

XM_005247412.1:c.474G>T

XM_005247412.1:c....

XM_005247412.1:c.474G>A

HGD transcript variant X2 XM_005247413.2:c....

XM_005247413.2:c.474=

XM_005247413.2:c....

XM_005247413.2:c.474G>T

XM_005247413.2:c....

XM_005247413.2:c.474G>A

HGD transcript variant X2 XM_005247413.1:c....

XM_005247413.1:c.474=

XM_005247413.1:c....

XM_005247413.1:c.474G>T

XM_005247413.1:c....

XM_005247413.1:c.474G>A

HGD transcript variant X4 XM_011512746.2:c....

XM_011512746.2:c.474=

XM_011512746.2:c....

XM_011512746.2:c.474G>T

XM_011512746.2:c....

XM_011512746.2:c.474G>A

homogentisate 1,2-dioxygenase NP_000178.2:p.Pro...

NP_000178.2:p.Pro158=

NP_000178.2:p.Pro...

NP_000178.2:p.Pro158=

NP_000178.2:p.Pro...

NP_000178.2:p.Pro158=

homogentisate 1,2-dioxygenase isoform X5 XP_005247471.1:p....

XP_005247471.1:p.Pro158=

XP_005247471.1:p....

XP_005247471.1:p.Pro158=

XP_005247471.1:p....

XP_005247471.1:p.Pro158=

homogentisate 1,2-dioxygenase isoform X3 XP_016861766.1:p....

XP_016861766.1:p.Pro17=

XP_016861766.1:p....

XP_016861766.1:p.Pro17=

XP_016861766.1:p....

XP_016861766.1:p.Pro17=

homogentisate 1,2-dioxygenase isoform X1 XP_005247469.1:p....

XP_005247469.1:p.Pro158=

XP_005247469.1:p....

XP_005247469.1:p.Pro158=

XP_005247469.1:p....

XP_005247469.1:p.Pro158=

homogentisate 1,2-dioxygenase isoform X2 XP_005247470.1:p....

XP_005247470.1:p.Pro158=

XP_005247470.1:p....

XP_005247470.1:p.Pro158=

XP_005247470.1:p....

XP_005247470.1:p.Pro158=

homogentisate 1,2-dioxygenase isoform X4 XP_011511048.1:p....

XP_011511048.1:p.Pro158=

XP_011511048.1:p....

XP_011511048.1:p.Pro158=

XP_011511048.1:p....

XP_011511048.1:p.Pro158=

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#.

18 SubSNP, 9 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3236870 Sep 28, 2001 (100)
2 1000GENOMES ss331004717 May 09, 2011 (134)
3 1000GENOMES ss489894691 May 04, 2012 (137)
4 ILLUMINA ss535063144 Sep 08, 2015 (146)
5 SSMP ss650612005 Apr 25, 2013 (138)
6 NHLBI-ESP ss712547041 Apr 25, 2013 (138)
7 1000GENOMES ss1305859508 Aug 21, 2014 (142)
8 EVA_EXAC ss1687158407 Apr 01, 2015 (144)
9 EVA_EXAC ss1687158408 Apr 01, 2015 (144)
10 HUMAN_LONGEVITY ss2255253413 Dec 20, 2016 (150)
11 TOPMED ss2422577828 Dec 20, 2016 (150)
12 GNOMAD ss2733990492 Nov 08, 2017 (151)
13 GNOMAD ss2747077590 Nov 08, 2017 (151)
14 GNOMAD ss2798280059 Nov 08, 2017 (151)
15 TOPMED ss3403598719 Nov 08, 2017 (151)
16 TOPMED ss3403598720 Nov 08, 2017 (151)
17 ILLUMINA ss3628759150 Oct 12, 2018 (152)
18 EVA ss3760599314 Jul 13, 2019 (153)
19 1000Genomes NC_000003.11 - 120365895 Oct 12, 2018 (152)
20 ExAC

Submission ignored due to conflicting rows:
Row 7094334 (NC_000003.11:120365894:C:C 121218/121222, NC_000003.11:120365894:C:T 4/121222)
Row 7094335 (NC_000003.11:120365894:C:C 121186/121222, NC_000003.11:120365894:C:A 36/121222)

- Oct 12, 2018 (152)
21 ExAC

Submission ignored due to conflicting rows:
Row 7094334 (NC_000003.11:120365894:C:C 121218/121222, NC_000003.11:120365894:C:T 4/121222)
Row 7094335 (NC_000003.11:120365894:C:C 121186/121222, NC_000003.11:120365894:C:A 36/121222)

- Oct 12, 2018 (152)
22 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 46815583 (NC_000003.11:120365894:C:C 31340/31344, NC_000003.11:120365894:C:A 4/31344)
Row 46815584 (NC_000003.11:120365894:C:C 31343/31344, NC_000003.11:120365894:C:T 1/31344)

- Jul 13, 2019 (153)
23 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 46815583 (NC_000003.11:120365894:C:C 31340/31344, NC_000003.11:120365894:C:A 4/31344)
Row 46815584 (NC_000003.11:120365894:C:C 31343/31344, NC_000003.11:120365894:C:T 1/31344)

- Jul 13, 2019 (153)
24 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3075974 (NC_000003.11:120365894:C:C 250982/251042, NC_000003.11:120365894:C:A 60/251042)
Row 3075975 (NC_000003.11:120365894:C:C 251035/251042, NC_000003.11:120365894:C:T 7/251042)

- Jul 13, 2019 (153)
25 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3075974 (NC_000003.11:120365894:C:C 250982/251042, NC_000003.11:120365894:C:A 60/251042)
Row 3075975 (NC_000003.11:120365894:C:C 251035/251042, NC_000003.11:120365894:C:T 7/251042)

- Jul 13, 2019 (153)
26 GO Exome Sequencing Project NC_000003.11 - 120365895 Oct 12, 2018 (152)
27 TopMed NC_000003.12 - 120647048 Oct 12, 2018 (152)
28 ClinVar RCV000289762.1 Oct 12, 2018 (152)
29 ClinVar RCV000344698.1 Oct 12, 2018 (152)
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
17112181, ss331004717, ss489894691, ss535063144, ss650612005, ss1305859508, ss1687158408, ss2733990492, ss2747077590, ss2798280059, ss3628759150, ss3760599314 NC_000003.11:120365894:C:A NC_000003.12:120647047:C:A (self)
RCV000289762.1, 261520755, ss2255253413, ss3403598719 NC_000003.12:120647047:C:A NC_000003.12:120647047:C:A (self)
ss3236870 NT_005612.16:26861040:C:A NC_000003.12:120647047:C:A (self)
403735, ss712547041, ss1687158407, ss2422577828, ss2733990492, ss2747077590, ss2798280059 NC_000003.11:120365894:C:T NC_000003.12:120647047:C:T (self)
RCV000344698.1, 261520755, ss3403598720 NC_000003.12:120647047:C:T NC_000003.12:120647047: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.

1 citation for rs2293734
PMID Title Author Year Journal
22606059 Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria. Magesh R et al. 2012 TheScientificWorldJournal

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.post246+3cda961